CCDC 115-CDG – Coiled-Coil Domain Containing 115 Congenital Disorder of Glycosylation

Last updated: February 8, 2026Reviewed date: February 8, 2026Reading time: 27 min read
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Article Summary

CCDC115-CDG (also called congenital disorder of glycosylation, type IIo / CDG2O) is a very rare inherited (autosomal recessive) condition where the body cannot “finish” adding and shaping sugar chains (glycans) on proteins in the right way. This problem mainly affects the Golgi apparatus (a cell “packaging station”), so many blood proteins and body proteins become abnormally glycosylated, which can cause liver disease (often severe), low...

Key Takeaways

  • This article explains What goes wrong in the body in simple medical language.
  • This article explains Other names in simple medical language.
  • This article explains Types in simple medical language.
  • This article explains Causes in simple medical language.
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CCDC115-CDG (also called congenital disorder of glycosylation, type IIo / CDG2O) is a very rare inherited (autosomal recessive) condition where the body cannot “finish” adding and shaping sugar chains (glycans) on proteins in the right way. This problem mainly affects the Golgi apparatus (a cell “packaging station”), so many blood proteins and body proteins become abnormally glycosylated, which can cause liver disease (often severe), low muscle tone, and developmental delay. Genetic Diseases Info Center+2PubMed+2

CCDC115-CDG is an ultra-rare genetic “congenital disorder of glycosylation (CDG).” In simple words, the body has trouble doing normal “sugar-tagging” (glycosylation) on proteins, so many organs can be affected at the same time—often the liver, growth/nutrition, and sometimes the immune system and brain. orpha.net+2ScienceDirect+2

Many people with CCDC115-CDG have serious liver disease (fatty change, scarring/chronic injury or inflammation. সহজ বাংলা: অতিরিক্ত দাগের মতো টিস্যু তৈরি হওয়া।" data-rx-term="fibrosis" data-rx-definition="Fibrosis means excess scar-like tissue formation after chronic injury or inflammation. সহজ বাংলা: অতিরিক্ত দাগের মতো টিস্যু তৈরি হওয়া।">fibrosis, cholestasis) and may look like other liver or “metabolic” problems at first, so genetic testing and expert evaluation matter. orpha.net+3PubMed+3ScienceDirect+3

What goes wrong in the body

CCDC115 helps keep the Golgi/ER system working correctly so proteins get normal glycosylation and traffic to the right places; when CCDC115 does not work, glycosylation patterns become abnormal and organs that rely on these proteins (especially liver and immune pathways) can suffer. ScienceDirect+1

Liver injury in CDG can include cholestasis (poor bile flow), fatty liver, infection, or irritation, often causing pain, swelling, heat, or redness. সহজ বাংলা: শরীরের প্রদাহ; ব্যথা, ফোলা বা লালভাব হতে পারে।" data-rx-term="inflammation" data-rx-definition="Inflammation is the body’s response to injury, infection, or irritation, often causing pain, swelling, heat, or redness. সহজ বাংলা: শরীরের প্রদাহ; ব্যথা, ফোলা বা লালভাব হতে পারে।">inflammation, chronic injury or inflammation. সহজ বাংলা: অতিরিক্ত দাগের মতো টিস্যু তৈরি হওয়া।" data-rx-term="fibrosis" data-rx-definition="Fibrosis means excess scar-like tissue formation after chronic injury or inflammation. সহজ বাংলা: অতিরিক্ত দাগের মতো টিস্যু তৈরি হওয়া।">fibrosis, and sometimes cirrhosis; the liver can also have problems making clotting factors, which increases bleeding risk. Frontiers+2PMC+2

Because CDG is multi-system, people may also have poor growth, feeding difficulty, vitamin malabsorption (especially fat-soluble vitamins A, D, E, K in cholestasis), and developmental delay, so care must be planned across several specialties. PMC+2PMC+2

In the first key report, people with CCDC115-CDG had a “storage-disease-like” pattern with enlarged liver and spleen, very high alkaline phosphatase, high cholesterol, abnormal copper tests, and sometimes neurologic symptoms; some individuals developed liver failure and at least one person received a liver transplant. PubMed+1

CCDC115 is also known in some databases as VMA22, and resources list them as the same human gene (synonym/alias), which is why you may see both names. ensembl.org+2NCBI+2

Other names

Common “other names” you may see include: carbohydrate deficient glycoprotein syndrome type IIo, CDG syndrome type IIo, CDG-IIo, CDG2O, congenital disorder of glycosylation type 2o / IIo, and CCDC115 congenital disorder of glycosylation. Genetic Diseases Info Center+1

Types

Because only a small number of patients have been reported, there are no “official” subtypes, but doctors often describe patterns like these: PubMed+2PubMed+2

  • Infantile-onset liver-predominant form (early hepatosplenomegaly, abnormal liver blood tests) Genetic Diseases Info Center+1

  • Severe progressive liver disease form (chronic injury or inflammation. সহজ বাংলা: অতিরিক্ত দাগের মতো টিস্যু তৈরি হওয়া।" data-rx-term="fibrosis" data-rx-definition="Fibrosis means excess scar-like tissue formation after chronic injury or inflammation. সহজ বাংলা: অতিরিক্ত দাগের মতো টিস্যু তৈরি হওয়া।">fibrosis/cirrhosis → possible liver failure) Genetic Diseases Info Center+2PubMed+2

  • Liver + neurodevelopmental form (liver disease plus hypotonia and psychomotor delay) Genetic Diseases Info Center+2PubMed+2

  • Wilson-like (“misleading”) presentation (abnormal copper tests that can look like Wilson disease) PubMed+2PubMed+2

  • Later-onset mainly liver form (late severe liver involvement with fewer other signs) PubMed+1

Causes

  1. Biallelic (two-copy) pathogenic variants in CCDC115 (VMA22) are the true root cause. A child is affected when both gene copies do not work well, which disrupts Golgi function and leads to abnormal glycosylation. PubMed+2NCBI+2

  2. Autosomal recessive inheritance is the usual genetic pattern. This means each parent typically carries one non-working copy and usually has no symptoms, but can pass the variant to the child. Genetic Diseases Info Center+1

  3. Carrier parents (both carriers) create the risk: when both parents carry a CCDC115 variant, a child can inherit two altered copies. Genetic Diseases Info Center+1

  4. Homozygous variants (the same variant from both parents) can cause CCDC115-CDG and were reported in early families described in the literature. PubMed

  5. Compound heterozygous variants (two different harmful changes, one on each copy) can also cause the disease and were reported as well. PubMed

  6. Missense variants (a “spelling change” that swaps one amino acid in the protein) have been reported in affected individuals and can impair the protein’s function. PubMed

  7. Deletions affecting the gene (loss of part of the gene) have been reported in combination with another variant in some families. PubMed

  8. Family history of similar illness can be a “cause” in the sense that the same recessive variants may be present in siblings, especially when parents are carriers. PubMed+1

  9. Consanguinity (parents related by blood) can increase the chance both parents carry the same rare variant, raising the risk of autosomal recessive diseases. Genetic Diseases Info Center+1

  10. Founder effect in a community (a rare variant becomes more common in a small population over time) can raise the chance of carriers meeting, even though the disease stays rare overall. NCBI+1

  11. Golgi homeostasis disruption is the key cell problem: the CCDC115 defect affects how the Golgi works, so proteins are processed incorrectly. PubMed+1

  12. Combined N- and O-glycosylation abnormalities are part of the disease mechanism; this combined pattern supports a Golgi-related CDG rather than a single-pathway defect. PubMed+1

  13. Abnormal transferrin (a blood protein) glycoforms happen because glycosylation is incorrect; this is not a separate cause, but a direct biochemical result of the genetic cause. PubMed+2NCBI+2

  14. Abnormal ApoC-III (O-glycosylation marker) patterns can occur in Golgi-related glycosylation defects; again, this reflects the underlying gene defect. PubMed+1

  15. Copper metabolism anomalies (for example low ceruloplasmin and other copper-related abnormalities) are reported in CCDC115-CDG; they result from the disorder and can confuse the diagnosis. PubMed+2PubMed+2

  16. Chronic liver injury progression (chronic injury or inflammation. সহজ বাংলা: অতিরিক্ত দাগের মতো টিস্যু তৈরি হওয়া।" data-rx-term="fibrosis" data-rx-definition="Fibrosis means excess scar-like tissue formation after chronic injury or inflammation. সহজ বাংলা: অতিরিক্ত দাগের মতো টিস্যু তৈরি হওয়া।">fibrosis → cirrhosis) is driven by the disease biology; it is a major reason the condition becomes serious over time. PubMed+2Genetic Diseases Info Center+2

  17. Intercurrent illnesses (like infections) do not cause the genetic disorder, but they can worsen weakness, feeding, and liver stress, making symptoms more obvious in affected infants/children. Frontiers+1

  18. Poor feeding and low nutrition do not cause CCDC115-CDG, but can intensify poor growth and weakness, so the child appears more unwell and complications become clearer. Genetic Diseases Info Center+1

  19. Bleeding risk from coagulation factor problems is a downstream effect; it can cause complications (easy bruising/bleeding) and is part of “why the disease causes harm.” NCBI+1

  20. Delayed diagnosis is not a biological cause, but it can “cause” worse outcomes because supportive care and liver monitoring may start late in a progressive liver disease. Frontiers+2Genetic Diseases Info Center+2

Symptoms

  1. Hepatomegaly (enlarged liver) means the liver becomes bigger than normal. In CCDC115-CDG, liver enlargement is often an early sign and may be found on exam or ultrasound. NCBI+2Genetic Diseases Info Center+2

  2. Splenomegaly (enlarged spleen) means the spleen grows larger, often together with liver enlargement (hepatosplenomegaly). This can reflect ongoing liver disease and altered blood flow in the abdomen. NCBI+1

  3. Hepatosplenomegaly is enlargement of both liver and spleen. The first major report described a storage-disease-like picture with hepatosplenomegaly that could change over time. PubMed+1

  4. Elevated liver enzymes (aminotransferases) are blood test signs of liver irritation or injury. CCDC115-CDG commonly shows elevated aminotransferases in reported patients. PubMed+2Genetic Diseases Info Center+2

  5. Very high alkaline phosphatase (ALP) can happen, and in reported cases it was often strongly elevated and sometimes described as “bone-derived” ALP elevation. PubMed+1

  6. Progressive liver chronic injury or inflammation. সহজ বাংলা: অতিরিক্ত দাগের মতো টিস্যু তৈরি হওয়া।" data-rx-term="fibrosis" data-rx-definition="Fibrosis means excess scar-like tissue formation after chronic injury or inflammation. সহজ বাংলা: অতিরিক্ত দাগের মতো টিস্যু তৈরি হওয়া।">fibrosis / cirrhosis means scar tissue builds up in the liver and can become advanced. Some patients had early severe chronic injury or inflammation. সহজ বাংলা: অতিরিক্ত দাগের মতো টিস্যু তৈরি হওয়া।" data-rx-term="fibrosis" data-rx-definition="Fibrosis means excess scar-like tissue formation after chronic injury or inflammation. সহজ বাংলা: অতিরিক্ত দাগের মতো টিস্যু তৈরি হওয়া।">fibrosis and cirrhosis in published reports. PubMed+2NCBI+2

  7. Liver failure means the liver can no longer do its main jobs (like making proteins and clearing toxins). In published cases, some individuals died of liver failure, and transplantation was used in at least one. PubMed+1

  8. Prolonged neonatal jaundice / cholestasis means yellow skin/eyes that last longer than expected in a newborn, often due to bile flow problems. Cholestatic liver disease features are listed among reported findings in databases. NCBI+1

  9. Hypotonia (low muscle tone) means the body feels “floppy,” and babies may have weak head control or delayed motor skills. Hypotonia is repeatedly reported in CCDC115-CDG descriptions. Genetic Diseases Info Center+2PubMed+2

  10. Global developmental delay / psychomotor delay means slower progress in skills like sitting, walking, talking, and learning. This is commonly reported along with liver disease in CCDC115-CDG. Genetic Diseases Info Center+2PubMed+2

  11. Seizures are episodes of abnormal electrical activity in the brain that can cause staring spells, stiffening, jerking, or other events. Seizures have been reported in some patients. Genetic Diseases Info Center+1

  12. Mild dysmorphic features means subtle differences in facial or body features that doctors notice during examination. They are described as “mild” and not always present. Genetic Diseases Info Center+1

  13. Hypercholesterolemia (high cholesterol) is a blood finding that has been reported in CCDC115-CDG, often together with liver abnormalities. PubMed+2PubMed+2

  14. Copper metabolism anomalies (Wilson-like lab pattern) means blood tests related to copper handling (such as ceruloplasmin) can look abnormal and may mimic Wilson disease, creating diagnostic confusion. PubMed+2PubMed+2

  15. Coagulation factor deficiencies / easy bleeding tendency can happen because the liver makes many clotting proteins; when the liver is sick (as in CCDC115-CDG), clotting tests may become abnormal. NCBI+1

Diagnostic tests

Physical exam tests

Its are the first step because CCDC115-CDG often shows liver enlargement, low tone, and developmental delay that can be recognized at the bedside. Genetic Diseases Info Center+2Frontiers+2

  1. General physical exam and growth measures (weight, length/height, head size). Doctors look for poor growth, swelling, jaundice, and overall illness pattern that may point toward a metabolic/genetic condition. Genetic Diseases Info Center+1

  2. Abdominal exam for hepatosplenomegaly (feeling for enlarged liver and spleen). This is a classic clue in reported CCDC115-CDG cases and supports urgent liver evaluation. Genetic Diseases Info Center+2PubMed+2

  3. Neurologic exam for hypotonia and reflexes. A clinician checks tone, strength, reflexes, and coordination because hypotonia and neurodevelopmental findings are commonly described. Genetic Diseases Info Center+2PubMed+2

  4. Developmental assessment at the bedside (milestone review). Asking when the child sat, walked, talked, and how they learn helps document global delay and guides referrals. Genetic Diseases Info Center+1

  5. Dysmorphology exam (looking carefully at facial/body features). Mild dysmorphic signs are reported in some cases and can help a genetic specialist choose testing faster. Genetic Diseases Info Center+1

Manual tests

Its are hands-on functional checks done by clinicians/therapists to measure how the child is functioning day-to-day. Frontiers+1

  1. Feeding and swallowing clinical assessment (bedside). Many liver/metabolic conditions can have poor feeding; a hands-on feeding assessment helps decide if a swallow study or nutrition support is needed. Genetic Diseases Info Center+1

  2. Physical therapy motor function evaluation. Therapists measure posture, head control, and gross motor skills to define hypotonia impact and plan supportive therapy. Genetic Diseases Info Center+1

  3. Speech-language assessment (communication and oral-motor skills). This helps document developmental delay and feeding/oral motor issues that can accompany neurodevelopmental involvement. Frontiers+1

Lab and pathological tests

Its are essential because CCDC115-CDG is suspected from a combination of liver labs and “glycosylation screening” tests. Frontiers+2PubMed+2

  1. Liver function panel (AST/ALT, bilirubin, ALP, GGT, albumin). CCDC115-CDG reports include elevated aminotransferases and ALP, and liver synthetic markers can worsen if liver disease progresses. PubMed+1

  2. Coagulation tests (PT/INR, aPTT, fibrinogen). The liver makes clotting factors, so these tests help detect liver synthetic failure and bleeding risk described in CDG-IIo summaries. NCBI+1

  3. Fasting lipid profile (cholesterol, LDL/HDL, triglycerides). Hypercholesterolemia is repeatedly reported in CCDC115-CDG and can be a useful clue when combined with liver disease. PubMed+2PubMed+2

  4. Copper studies (ceruloplasmin, serum copper, urine copper as clinically appropriate). Abnormal copper metabolism findings can mimic Wilson disease, so copper testing is part of the “rule-out and clue” process. PubMed+2PubMed+2

  5. Serum transferrin isoform analysis (CDT / transferrin IEF or HPLC methods). This is a core screening test for many CDGs; CCDC115-CDG shows abnormal glycosylation patterns detectable on serum proteins. Frontiers+2PubMed+2

  6. ApoC-III isoform analysis (an O-glycosylation marker). Because CCDC115-CDG is a combined N- and O-glycosylation problem, ApoC-III testing can support a Golgi-related CDG pattern. PubMed+1

  7. Plasma/serum glycan profiling by mass spectrometry (clinical glycomics). Specialized labs can measure glycan structures more deeply, which helps confirm and classify CDG patterns beyond screening. Frontiers+1

  8. Genetic testing (CCDC115 sequencing; CDG gene panel; exome/genome sequencing). Molecular confirmation is the final step—published cases were diagnosed by exome sequencing and variant analysis. PubMed+1

Electrodiagnostic tests

It help when seizures or neurologic symptoms are present. Genetic Diseases Info Center+1

  1. EEG (electroencephalogram) checks brain electrical activity and helps confirm and classify seizures when they are suspected or reported. NCBI+1

  2. Nerve conduction studies / EMG (when clinically indicated) evaluate nerve and muscle function if there are concerning weakness patterns, muscle wasting, or unexplained motor problems. NCBI+1

Imaging tests

Its are important to measure liver disease severity and to look for related organ findings. Genetic Diseases Info Center+2PubMed+2

  1. Abdominal ultrasound (liver and spleen imaging) can confirm hepatosplenomegaly and look for signs of chronic liver disease or portal hypertension. Genetic Diseases Info Center+2NCBI+2

  2. Liver MRI or liver elastography (where available) helps evaluate fat (steatosis), fibrosis, and disease progression, which matters because severe fibrosis/cirrhosis and liver failure are reported outcomes. PubMed+1

Main goals of treatment

The goals are to (1) prevent avoidable harm (infections, dehydration, low blood sugar, bleeding), (2) support growth and brain development, (3) slow liver damage and treat complications, and (4) improve quality of life for the child and family. PMC+2Frontiers+2

All medicines and doses must be chosen by a clinician because CCDC115-CDG often includes liver disease, and liver disease can change how drugs are handled (and can increase side-effects). Frontiers+1

Non-pharmacological treatments (therapies and other supports)

  1. Metabolic/genetic care team follow-up: Regular visits with genetics/metabolic and hepatology help catch complications early and update testing and plans. PMC+1

  2. Nutrition plan (high-calorie when needed): Many children need extra calories and protein to grow; dietitians adjust feeds to improve weight and strength. NASPGHAN+1

  3. Feeding therapy (swallow + oral motor): Speech/feeding therapists help reduce choking risk and improve safe intake by mouth when possible. Pediatrics+1

  4. Tube feeding when oral intake fails: Nasogastric or gastrostomy feeding can improve growth when a child cannot meet needs by mouth; risks/benefits must be weighed in chronic liver disease. Pediatrics+1

  5. Physical therapy: Builds strength, balance, and joint range, and helps prevent contractures when low tone or weakness is present. PMC+1

  6. Occupational therapy: Improves daily skills (hand use, play, self-care) and supports adaptive tools for school and home. PMC+1

  7. Speech/language therapy: Helps communication (speech or AAC devices) and supports learning and behavior. PMC+1

  8. Developmental/early-intervention programs: Structured early support improves function and reduces long-term disability impact in many neurodevelopmental conditions. PMC+1

  9. Liver complication monitoring: Routine labs and imaging help track cholestasis, fibrosis, and portal hypertension signs early. Frontiers+1

  10. Bleeding-risk planning: If clotting factors are low, clinicians plan dental work/surgery carefully and monitor bruising/bleeding. Frontiers+1

  11. Vaccination optimization: Vaccines help reduce infection burden; immune evaluation may change timing and which vaccines are safe. PMC+1

  12. Infection-prevention habits: Hand hygiene, avoiding sick contacts during outbreaks, and early fever assessment are important if immune function is weak. primaryimmune.org+1

  13. Sleep routine and behavioral supports: Better sleep improves learning, mood, and seizure threshold in many neurologic conditions. PMC+1

  14. Safe exercise/play plan: Gentle activity supports muscle and bone health while avoiding exhaustion and dehydration (important in liver disease). NASPGHAN+1

  15. Education plan (IEP/504 equivalent): School supports for learning, mobility, and communication improve participation and outcomes. PMC+1

  16. Genetic counseling for family planning: Explains inheritance risk and testing options for parents and siblings. orpha.net+1

  17. Regular hearing/vision checks: Multi-system genetic disorders can include sensory issues; early detection improves development. PMC+1

  18. Dental care with liver-aware planning: Gum bleeding and procedures may need special planning if clotting is abnormal. Wiley Online Library+1

  19. Mental health + caregiver support: Chronic rare disease care is stressful; structured support improves adherence and wellbeing. PMC+1

  20. Emergency plan sheet: A written plan for fever, vomiting, bleeding, or seizure helps families and local hospitals act fast. PMC+1

Drug treatments

Important: CCDC115-CDG has no FDA-approved “disease-specific” drug. The drugs below are commonly used to treat complications (cholestasis, bleeding risk, infections, seizures, vomiting, etc.). Doses must be individualized by a clinician. PMC+2PubMed+2

  1. Ursodiol (Actigall/URSO) — Class: bile acid. Time: taken with food, usually divided doses. Purpose: improves bile flow in cholestasis-type problems. Mechanism: changes bile composition and supports bile secretion. Key label dosing concept: adult PBC dosing is weight-based (example listed 13–15 mg/kg/day in divided doses); clinician adjusts. Side effects: diarrhea, stomach upset (varies). FDA Access Data+2FDA Access Data+2

  2. Phytonadione (Vitamin K1; oral or injection depending on case) — Class: vitamin/coagulation support. Time: clinician-directed (often urgent if bleeding risk). Purpose: helps correct vitamin K deficiency and supports clotting factor activation. Mechanism: co-factor for clotting factor activation. Side effects: injection reactions; rare serious reactions reported with IV use in labels. FDA Access Data+2PMC+2

  3. Rifaximin (Xifaxan) — Class: gut-targeted antibiotic. Time: scheduled dosing. Purpose: reduces gut bacteria that produce toxins (used in hepatic encephalopathy settings). Mechanism: inhibits bacterial RNA synthesis locally in gut. Side effects: nausea, swelling, fatigue reported; caution in severe hepatic impairment on label. FDA Access Data+1

  4. Lactulose (Enulose; oral solution) — Class: osmotic laxative. Time: divided doses to achieve target bowel movements (clinician goal). Purpose: constipation and commonly used in hepatic encephalopathy care plans. Mechanism: draws water into colon; changes colonic pH and ammonia handling. Side effects: diarrhea, bloating, cramps, dehydration if overdone. FDA Access Data+2FDA Access Data+2

  5. Spironolactone (Aldactone) — Class: potassium-sparing diuretic/aldosterone antagonist. Time: daily (varies). Purpose: ascites/edema management in liver disease. Mechanism: blocks aldosterone, reduces sodium/water retention. Side effects: high potassium, breast tenderness, menstrual changes. FDA Access Data+1

  6. Furosemide (Lasix) — Class: loop diuretic. Time: clinician-set schedule. Purpose: edema/ascites control. Mechanism: increases salt and water excretion in kidney. Side effects: dehydration, low potassium/sodium, kidney stress—needs monitoring. FDA Access Data+1

  7. Propranolol (Inderal/Inderal LA) — Class: beta-blocker. Time: daily or divided, clinician-directed. Purpose: sometimes used to lower portal pressure and reduce variceal bleeding risk in portal hypertension care (specialist decision). Mechanism: lowers heart output and splanchnic blood flow. Side effects: slow heart rate, low blood pressure, wheeze in asthma. FDA Access Data+1

  8. Omeprazole (Prilosec) — Class: proton pump inhibitor. Time: taken before eating per label instructions. Purpose: reflux/ulcer protection when needed. Mechanism: lowers stomach acid production. Side effects: headache, diarrhea; longer use has risks (doctor monitors). FDA Access Data+1

  9. Ondansetron (Zofran) — Class: anti-nausea (5-HT3 blocker). Time: as scheduled or as needed per plan. Purpose: vomiting control to prevent dehydration and poor intake. Mechanism: blocks serotonin signaling that triggers vomiting. Side effects: constipation, headache; QT risk warnings exist in labeling context. FDA Access Data+1

  10. Amoxicillin/clavulanate (Augmentin) — Class: antibiotic (penicillin + beta-lactamase inhibitor). Time: often taken with food; course length depends on infection. Purpose: bacterial infections (sinus/ear/chest/skin, etc.)—doctor choice based on cultures. Mechanism: blocks bacterial cell wall; clavulanate protects amoxicillin. Side effects: diarrhea, rash; liver warnings exist in labeling. FDA Access Data+1

  11. Ceftriaxone (IV) — Class: cephalosporin antibiotic. Time: IV, often once daily depending on infection. Purpose: serious bacterial infections (doctor/hospital use). Mechanism: blocks bacterial cell wall. Side effects: allergy, diarrhea; special cautions with calcium in IV lines appear in labels. FDA Access Data+1

  12. Levetiracetam (Keppra) — Class: anti-seizure medicine. Time: usually twice daily; IV form can be infused per label. Purpose: seizure control if seizures occur. Mechanism: binds SV2A (modulates neurotransmitter release). Side effects: sleepiness, dizziness; behavioral/mood warnings appear in labels. FDA Access Data+1

  13. Divalproex/Valproate (Depakote) — Class: anti-seizure/mood stabilizer. Time: scheduled daily dosing (formulation dependent). Purpose: seizure control in selected cases. Mechanism: increases inhibitory signaling and affects ion channels. Side effects: serious liver toxicity risk is a key warning; specialist selection is critical in liver disease. FDA Access Data+1

  14. Diazepam rectal gel (for seizure rescue in some plans) — Class: benzodiazepine. Time: rescue use per emergency plan. Purpose: stop prolonged seizures. Mechanism: boosts GABA calming signals. Side effects: sleepiness, slowed breathing (needs strict medical plan). FDA Access Data+1

  15. Phenobarbital (selected seizure plans) — Class: barbiturate anti-seizure. Time: scheduled dosing (clinician-directed). Purpose: seizure control in some patients. Mechanism: increases GABA-A activity. Side effects: sedation, learning effects, drug interactions. FDA Access Data+1

  16. Hydrocortisone injection (Solu-Cortef) when adrenal crisis risk exists — Class: corticosteroid. Time: emergency or stress dosing only when indicated. Purpose: treat adrenal insufficiency/crisis (only if diagnosed). Mechanism: replaces cortisol and reduces shock/inflammation. Side effects: high sugar, infection risk, stomach irritation. Office of Dietary Supplements+1

  17. Levothyroxine (Synthroid) — Class: thyroid hormone (T4). Time: daily. Purpose: treats hypothyroidism if present. Mechanism: replaces thyroid hormone to normalize metabolism and growth. Side effects: too-high dose can cause fast heart rate, anxiety, weight loss; label notes adrenal insufficiency must be corrected first. FDA Access Data+1

  18. Human albumin infusion (selected hospital situations) — Class: plasma protein volume expander. Time: IV in monitored setting. Purpose: supports blood volume/oncotic pressure in some liver complications. Mechanism: pulls fluid into blood vessels. Side effects: fluid overload risk; allergy risk. FDA Access Data+1

  19. Tranexamic acid (selected bleeding plans) — Class: antifibrinolytic. Time: short-term in bleeding risk situations (specialist). Purpose: reduce some bleeding by stabilizing clots. Mechanism: blocks plasminogen activation. Side effects: clot risk in certain patients; requires careful selection. FDA Access Data+1

  20. Desmopressin (DDAVP; selected bleeding disorders) — Class: vasopressin analog. Time: short-term for procedures/bleeding in specific disorders. Purpose: can raise von Willebrand factor/factor VIII in responsive patients. Mechanism: triggers release of stored clotting proteins. Side effects: low sodium/water retention—must monitor. FDA Access Data+1

Dietary molecular supplements

  1. Vitamin D — Supports bone and immune function; deficiency is common in chronic illness. Dose depends on blood level; too much can be harmful, so labs guide dosing. Office of Dietary Supplements+1

  2. Vitamin A — Important for vision and immunity; can be low in cholestasis but toxic if overdosed, so use only under specialist monitoring. PMC+1

  3. Vitamin E — Antioxidant that protects cell membranes; absorption can be low with poor bile flow; dosing should follow clinician plan. PMC+1

  4. Vitamin K (oral form for maintenance) — Supports clotting; cholestasis can reduce absorption, so clinicians use labs and symptoms to guide long-term dosing. PMC+1

  5. Omega-3 fatty acids (EPA/DHA) — May support heart and inflammation balance; can help overall nutrition when intake is poor, but product quality and dose matter. Office of Dietary Supplements+1

  6. Zinc — Important for growth, wound healing, and immune function; too much can cause copper problems, so dosing should be careful. Office of Dietary Supplements+1

  7. Selenium — Supports antioxidant enzymes and thyroid pathways; excess can be toxic, so avoid high dosing without labs. APIM+1

  8. Calcium (with vitamin D plan) — Supports bones; diet + supplements may be needed when growth is poor; constipation risk exists. Office of Dietary Supplements+1

  9. Iron (only if iron deficiency is proven) — Helps anemia and development; too much iron can be harmful, so lab confirmation is needed first. The Nutrition Source+1

  10. Carnitine (L-carnitine; specialist-directed) — Sometimes used in metabolic care to support fatty-acid transport; benefit depends on the individual diagnosis and labs. PMC+1

  1. IVIG (immune globulin IV) — Used when antibody deficiency/recurrent infections are present. It provides pooled antibodies to help fight infections. Dosing is weight-based and scheduled (often every few weeks) under an immunologist. FDA Access Data+1

  2. SCIG (subcutaneous immune globulin; when chosen) — Similar goal as IVIG but given under the skin in smaller, more frequent doses for some patients; clinician decides which route fits. primaryimmune.org+1

  3. Filgrastim (G-CSF) — Can raise neutrophils in selected neutropenia settings and reduce infection risk; dosing and monitoring are specialist-controlled. Office of Dietary Supplements+1

  4. Pegfilgrastim (long-acting G-CSF) — Longer-acting option used in specific contexts; not routine for every patient and requires specialist decision. FDA Access Data+1

  5. Sargramostim (GM-CSF) — Another growth factor that can support certain white blood cell recovery pathways in selected cases (specialist use). FDA Access Data+1

  6. Plerixafor (stem-cell mobilizer; transplant pathway drug) — Used to mobilize stem cells for collection in some transplant settings; this is not a “CDG cure,” but part of a stem-cell transplant process when indicated. FDA Access Data+1

A true “regenerative” option in immune diseases is hematopoietic stem cell transplantation (HSCT) for specific severe inborn errors of immunity; whether it applies to a CCDC115-CDG patient depends on immune testing and expert review. primaryimmune.org+2PubMed+2

Surgeries / procedures (what they are and why they are done)

  1. Gastrostomy tube placement (G-tube) — Done when a child cannot eat enough safely; improves nutrition and growth, but requires careful planning if portal hypertension is present. Pediatrics+1

  2. Central venous access (port/PICC) when needed — Used for frequent IV therapies (e.g., IVIG, antibiotics) when repeated access is difficult; risk includes infection and clot. primaryimmune.org+1

  3. Endoscopy with variceal treatment (if portal hypertension/varices) — Done to check or treat varices that can bleed in advanced liver disease. Frontiers+1

  4. Liver transplantation (selected severe liver failure cases) — Considered when liver disease is life-threatening and not controlled; CCDC115 deficiency has published cases including transplant. ScienceDirect+1

  5. HSCT (bone marrow/stem cell transplant) for severe immune disease — A major procedure used for certain inborn immune disorders; only for carefully selected patients and centers. primaryimmune.org+1

Prevention and day-to-day risk reduction steps

  1. Keep a “fever rule”: fever in an immune-weak child should be assessed quickly, because serious infections can move fast. primaryimmune.org+1

  2. Handwashing + masking during outbreaks reduces respiratory infection exposure in vulnerable patients. primaryimmune.org+1

  3. Avoid dehydration (especially with vomiting/diarrhea or diuretics) because it worsens weakness and can stress kidneys/liver. FDA Access Data+1

  4. Medication review at every visit to avoid liver-unsafe or interacting drugs when liver function is reduced. Frontiers+1

  5. Routine liver monitoring (labs/imaging) to catch portal hypertension and fibrosis progression early. Frontiers+1

  6. Nutrition tracking (weight/height/arm measures) to act early before severe malnutrition happens. NASPGHAN+1

  7. Bleeding-precaution planning before dental/surgery if clotting is abnormal. Wiley Online Library+1

  8. Safe food and water practices to lower stomach infection risk (important with immune weakness). primaryimmune.org+1

  9. Vaccines and immune plan (which vaccines, timing, and safety) individualized by immunology. primaryimmune.org+1

  10. Emergency sheet + medicines list carried by caregivers to prevent delays and drug errors during emergencies. PMC+1

When to see a doctor (and when it’s urgent)

Go urgently / emergency for: trouble breathing, repeated vomiting with sleepiness, seizure that does not stop, black or bloody stool/vomit, new confusion, severe jaundice, or signs of dehydration (very low urine, very dry mouth, fainting). Frontiers+2Wiley Online Library+2

See the doctor soon for: poor weight gain, ongoing diarrhea, frequent infections, easy bruising, new swelling of belly/legs, or behavior/learning regression—these can signal worsening liver disease, malabsorption, or immune complications. Frontiers+2primaryimmune.org+2

What to eat and what to avoid

  1. Eat enough calories (small frequent meals) if appetite is poor; growth is a key treatment target. NASPGHAN+1

  2. Adequate protein unless the liver team limits it for a specific complication; protein supports growth and healing. NASPGHAN+1

  3. Use dietitian-approved fats; in cholestasis, absorption is altered and fat-soluble vitamins may be low. PMC+1

  4. Fruits and vegetables daily (as tolerated) for fiber and micronutrients. NASPGHAN

  5. Safe, clean water; treat vomiting/diarrhea early to avoid dehydration. Frontiers+1

  6. Limit high-salt foods if swelling/ascites is present (doctor/dietitian sets the exact plan). Frontiers+1

  7. Avoid alcohol (for teens/adults) and avoid unnecessary herbal “liver cleanses,” because liver injury risk is real. Frontiers+1

  8. Be careful with high-dose vitamin A, D, E, K without labs—fat-soluble vitamins can build up and cause toxicity. PMC+1

  9. Avoid raw/undercooked foods if immune problems exist (foodborne infections). primaryimmune.org+1

  10. Avoid skipping meals if the child is small/fragile; steady intake helps energy and growth. NASPGHAN+1

FAQs

  1. Is CCDC115-CDG curable? Not currently; care is supportive and complication-focused, and some severe cases may need transplantation options. orpha.net+2ScienceDirect+2

  2. Why is it called a “glycosylation disorder”? Because the body has trouble attaching/processing sugar chains on proteins, which affects how proteins work. ScienceDirect+1

  3. Why is liver disease common? Many liver proteins rely on proper glycosylation; CDG can cause cholestasis and fibrosis in the liver. Frontiers+1

  4. Can it look like Wilson disease or other liver diseases? Yes—published reports note diagnostic confusion with other metabolic liver problems. PubMed+1

  5. What tests confirm it? Genetic testing of CCDC115 plus glycosylation studies (like transferrin glycoforms) guided by specialists. ScienceDirect+1

  6. What doctors are usually involved? Genetics/metabolic, hepatology, neurology, immunology, nutrition, and therapies (PT/OT/speech). PMC+1

  7. Are there FDA-approved drugs specifically for CCDC115-CDG? No; drugs are used for symptoms (cholestasis, seizures, infections, bleeding risk). PMC+1

  8. Why are vitamins A/D/E/K often discussed? Cholestasis can reduce absorption of fat-soluble vitamins; replacement must be monitored to avoid toxicity. PMC+1

  9. Can a child need a feeding tube? Yes, when oral intake is not enough or unsafe; it can improve growth and stability. Pediatrics+1

  10. Can liver transplant help? In selected severe liver failure, transplant has been reported in CCDC115 deficiency and in CDG-related liver disease contexts. ScienceDirect+2PMC+2

  11. Does transplant fix everything? It may fix liver function, but CDG is systemic, so other issues can persist and need ongoing care. PMC+1

  12. What about immune globulin (IVIG/SCIG)? It can reduce infections when antibody deficiency exists; it must be prescribed and monitored by immunology. FDA Access Data+1

  13. Are seizures expected in every patient? Not necessarily; CDG symptoms vary widely, so neurologic evaluation is individualized. PMC+1

  14. Can siblings be affected? It depends on inheritance in the family; genetic counseling helps clarify risks and testing options. orpha.net+1

  15. What is the most important daily action for families? Keep nutrition and hydration stable, act early for fever/infection signs, and keep regular follow-ups with the multi-specialty team. PMC+2primaryimmune.org+2

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: December 15, 2025.

PDF Documents For This Disease Condition

  1. Rare Diseases and Medical Genetics.[rxharun.com]
  2. i2023_IFPMA_Rare_Diseases_Brochure_28Feb2017_FINAL.[rxharun.com]
  3. the-UK-rare-diseases-framework.[rxharun.com]
  4. National-Recommendations-for-Rare-Disease-Health-Care-Summary.[rxharun.com]
  5. History of rare diseases and their genetic.[rxharun.com]
  6. health-care-and-rare-disorders.[rxharun.com]
  7. Rare Disease Registries.[rxharun.com]
  8. autoimmune-Rare-Genetic-Diseases.[rxharun.com]
  9. Rare Genetic Diseases.[rxharun.com]
  10. rare-disease-day.[rxharun.com]
  11. Rare_Disease_Drugs_e.[rxharun.com]
  12. fda-CDER-Rare-Diseases-Public-Workshop-Master.[rxharun.com]
  13. rare-and-inherited-disease-eligibility-criteria.[rxharun.com]
  14. FDA-rare-disease-list.pdf-rxharun.com1 Human-Gene-Therapy-for-Rare Diseases_Jan_2020fda.[rxharun.com]
  15. FDA-rare-disease-lists.[rxharun.com]
  16. 30212783fnl_Rare Disease.[rxharun.com]
  17. FDA-rare-disease-list.[rxharun.com]
  18. List of rare disease.[rxharun.com]
  19. Genome Res.-2025-Steyaert-755-68.[rxharun.com]
  20. uk-practice-guidelines-for-variant-classification-v4-01-2020.[rxharun.com]
  21. PIIS2949774424010355.[rxharun.com]
  22. hidden-costs-2016.[rxharun.com]
  23. B156_CONF2-en.[rxharun.com]
  24. IRDiRC_State-of-Play-2018_Final.[rxharun.com]
  25. IRDR_2022Vol11No3_pp96_160.[rxharun.com]
  26. from-orphan-to-opportunity-mastering-rare-disease-launch-excellence.[rxharun.com]
  27. Rare disease fda.[rxharun.com]
  28. England-Rare-Diseases-Action-Plan-2022.[rxharun.com]
  29. SCRDAC 2024 Report.[rxharun.com]
  30. CORD-Rare-Disease-Survey_Full-Report_Feb-2870-2.[rxharun.com]
  31. Stats-behind-the-stories-Genetic-Alliance-UK-2024.[rxharun.com]
  32. rare-and-inherited-disease-eligibility-criteria-v2.[rxharun.com]
  33. ENG_White paper_A4_Digital_FINAL.[rxharun.com]
  34. UK_Strategy_for_Rare_Diseases.[rxharun.com]
  35. MalaysiaRareDiseaseList.[rxharun.com]
  36. EURORDISCARE_FULLBOOKr.[rxharun.com]
  37. EMHJ_1999_5_6_1104_1113.[rxharun.com]
  38. national-genomic-test-directory-rare-and-inherited-disease-eligibilitycriteria-.[rxharun.com]
  39. be-counted-052722-WEB.[rxharun.com]
  40. RDI-Resource-Map-AMR_MARCH-2024.[rxharun.com]
  41. genomic-analysis-of-rare-disease-brochure.[rxharun.com]
  42. List-of-rare-diseases.[rxharun.com]
  43. RDI-Resource-Map-AFROEMRO_APRIL[rxharun.com]
  44. rdnumbers.[rxharun.com] .
  45. Rare disease atoz .[rxharun.com]
  46. EmanPublisher_12_5830biosciences-.[rxharun.com]

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  73. https://orwh.od.nih.gov/

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