Disorder of glycine amidinotransferase (AGAT) activity is a rare, inherited condition where the body cannot make enough creatine, a small energy-carrying molecule that the brain and muscles need. The enzyme AGAT (coded by the GATM gene) normally performs the first step in creatine production, combining the amino acids arginine and glycine to form guanidinoacetate (GAA). When AGAT is not working, GAA becomes low, creatine becomes low, and the brain shows a missing or very small creatine peak on a special MRI scan called proton magnetic resonance spectroscopy (¹H-MRS). Children usually present with developmental delay, speech-language delay, hypotonia (low muscle tone), and learning problems. Seizures are uncommon in AGAT deficiency (unlike in the related GAMT and creatine transporter disorders). The main, proven treatment is oral creatine monohydrate, ideally started early in life to support brain development and muscle strength. Genetic testing confirms changes in the GATM gene, and blood/urine tests show low GAA and low or low-normal creatine/creatinine. NCBIPMC
Glycine amidinotransferase (often shortened to AGAT) is an enzyme your body uses to make creatine. Creatine is a small molecule that helps the brain and muscles store and use energy. AGAT starts the very first step of creatine production by combining two amino acids, arginine and glycine, to form guanidinoacetate (GAA). Then a second enzyme turns GAA into creatine. If AGAT does not work well because of changes (variants) in the GATM gene, the body makes too little GAA and too little creatine. Low creatine in the brain can cause developmental delay, learning problems, weak muscles, and speech delay. Doctors group this condition with the “cerebral creatine deficiency syndromes.” It is rare and autosomal recessive (a child must inherit a non-working copy from both parents). Early diagnosis matters because oral creatine can help, especially when started in infancy. NCBI
Other names
This condition has many names. Doctors call it arginine:glycine amidinotransferase deficiency, AGAT deficiency, GATM deficiency, cerebral creatine deficiency syndrome type 3 (CCDS3), or creatine deficiency syndrome due to AGAT deficiency. All these names point to the same core problem: low AGAT activity leads to low guanidinoacetate and low creatine, especially in the brain. Symptoms often include delayed speech, learning problems, and low muscle tone. Some reports describe febrile seizures, but seizures appear uncommon in AGAT deficiency compared with the other creatine disorders. The condition is inherited in an autosomal recessive way. MedlinePlusNCBI
Types
Because this is a rare genetic disorder, doctors don’t use strict “official” subtypes. But thinking in the following simple groups is useful in practice:
1) Age at presentation.
Infant-onset: poor feeding, delayed milestones, low tone.
Childhood-onset: speech delay and school difficulties are most obvious.
Adolescent/adult recognition: milder learning issues discovered later.
2) Degree of enzyme loss.
Complete (severe) deficiency: very low AGAT activity; strong creatine shortage.
Partial deficiency: some AGAT activity remains; symptoms can be milder.
3) Symptom-dominant patterns.
Neurodevelopmental-predominant: speech and learning issues lead.
Myopathy-predominant: fatigue and muscle weakness stand out.
Biochemical/asymptomatic early stage: found on family screening before symptoms; best outcomes with early creatine therapy. NCBI
Causes
In all people with this disorder, the underlying cause is harmful variants in GATM, the gene that makes the AGAT enzyme. Below are common ways those variants can damage the enzyme or its production.
Missense variants. A single “letter” change alters one amino acid in AGAT, reducing its function. NCBI
Nonsense variants. A change creates a premature stop signal; the enzyme is cut short and does not work. NCBI
Frameshift variants. Small insertions/deletions shift the reading frame and ruin the protein. NCBI
Splice-site variants. Errors at intron–exon borders cause faulty RNA splicing and a defective enzyme. NCBI
Promoter/regulatory variants. Changes in gene “on/off” switches lower how much AGAT is made. NCBI
Start-codon loss. The protein cannot even begin to be built. NCBI
Stop-loss variants. The protein is extended and misfolds. NCBI
In-frame deletions/insertions. Remove or add a few amino acids at critical sites, hurting activity. NCBI
Copy-number changes. Deletions or duplications remove or disrupt part/all of the GATM gene. NCBI
Active-site hits. Variants directly damage the catalytic pocket where arginine and glycine bind. (Shown in functional studies of GATM missense variants.) NCBI
Dimerization/interface changes. AGAT works as an oligomer; variants at the interface can destabilize it. NCBI
Mitochondrial targeting disruption. AGAT is a mitochondrial enzyme; targeting-sequence variants mislocalize it. NCBI
mRNA instability. Some variants make the RNA fragile and quickly degraded. NCBI
Founder variants in specific populations. A single historical variant recurs in related families. NCBI
Compound heterozygosity. Two different harmful variants, one from each parent, together cause disease. NCBI
Consanguinity (risk factor). Parents who are related share the same rare variant more often, raising risk in children. (Cause of inheritance pattern concentration, not a direct molecular cause.) NCBI
Deep intronic variants. Hidden changes far from exons can create abnormal splice sites. NCBI
Large genomic rearrangements. Rare structural changes disrupt the GATM region on chromosome 15q21.1. NCBI
Pathogenic regulatory network effects. Variants that blunt normal feedback regulation of AGAT expression (creatine down-regulates AGAT) can contribute to deficiency when combined with other hits. NCBI
Uncharacterized rare variants. Newly found changes with proven low AGAT activity on enzyme testing complete the spectrum. NCBI
Symptoms and signs
Speech delay. Children talk later than peers; words and sentences come slowly. MedlinePlus
Learning difficulties. School tasks are harder; new information is slow to stick. MedlinePlus
Mild to moderate intellectual disability. Reasoning and problem-solving are below age level. MedlinePlus
Motor delay. Sitting, crawling, or walking may happen later than usual. MedlinePlus
Low muscle tone (hypotonia). Muscles feel floppy; posture and balance are harder. MedlinePlus
Fatigue and easy tiring. Low cellular energy makes kids and adults tire quickly. NCBI
Muscle weakness. Tasks like climbing stairs or running feel difficult. NCBI
Behavioral features. Some children show autistic traits such as social and communication challenges. MedlinePlus
Attention problems. Focus and impulse control can be reduced. NCBI
Poor growth or “failure to thrive” in infancy. Weight gain may be slow. MedlinePlus
Coordination problems. Fine and gross motor skills may be clumsy. NCBI
Feeding difficulties in infants. Sucking and swallowing can be weak. NCBI
Sleep disruption. Poor sleep can worsen daytime behavior and learning. (Common in neurodevelopmental disorders.) NCBI
Seizures (uncommon). Reports describe febrile seizures in some cases, but epilepsy is uncommon in AGAT deficiency. MedlinePlusNCBI
Normal exam early in life. Some babies look well; problems become clearer as demands rise. NCBI
Diagnostic tests
A) Physical examination
General developmental assessment. Doctor checks milestones (sitting, walking, talking). Delays suggest low brain creatine. NCBI
Neurologic exam. Looks at tone, reflexes, coordination, and strength; hypotonia and mild weakness may be seen. NCBI
Growth check. Charts weight, length/height, and head size; may reveal poor weight gain in infancy. MedlinePlus
Speech-language observation. Simple bedside screening can show expressive language delay. NCBI
Behavioral/attention screening. Flags autism-spectrum traits or attention issues that merit full testing. MedlinePlus
B) Manual/functional tests
Standardized developmental testing (e.g., Bayley Scales). Measures cognitive, language, and motor skills to set a baseline and track change on therapy. NCBI
Cognitive testing (e.g., WPPSI/WISC). For older children; clarifies learning profile and supports school plans. NCBI
Speech-language evaluation. Identifies receptive/expressive delays and guides therapy goals. NCBI
Motor function scales (e.g., GMFM or Peabody). Quantifies gross and fine motor skills; helpful if weakness or hypotonia is present. NCBI
Adaptive behavior scales (e.g., Vineland). Captures daily living skills important for services and follow-up. NCBI
C) Laboratory and pathological tests
Urine or plasma guanidinoacetate (GAA). Low GAA is a key marker of AGAT deficiency. NCBIPMCPubMed
Urine or plasma creatine and creatinine. These are low or low-normal in AGAT deficiency. Together with low GAA, this pattern strongly suggests the diagnosis. NCBIPMC
CSF GAA and creatine (if needed). Confirms the same low pattern in spinal fluid when blood/urine are inconclusive. NCBI
GATM gene testing (sequencing/CNV). Finds the two disease-causing variants and confirms the diagnosis. Family testing helps with early treatment. NCBI
AGAT enzyme activity (specialized labs). Directly measures low enzyme function in cells (used when DNA findings are unclear). NCBI
Renal function (baseline and during therapy). Creatine therapy is generally safe, but kidney function is monitored yearly. NCBI
Plasma amino acids. Helps rule out other metabolic disorders and provides a baseline. NCBI
Biochemical screening panels for CCDS. Many centers run combined creatine/GAA tests as first-line screens for all creatine disorders. Association for Creatine Deficiencies
D) Electrodiagnostic tests
EEG (if spells or suspected seizures). Most people with AGAT deficiency do not have chronic epilepsy, but EEG is used when events occur. NCBIMedlinePlus
EMG/nerve conduction (selected cases). If muscle weakness is prominent, these studies check muscle and peripheral nerve function. PubMed
E) Imaging tests
Brain MRI. Often normal or shows nonspecific changes; mainly used to exclude other causes. NCBI
Proton MR spectroscopy (¹H-MRS) of the brain. Signature test: shows a markedly reduced or absent creatine peak in AGAT deficiency. This finding supports the diagnosis and helps monitor treatment. NCBIPMC
Follow-up ¹H-MRS during treatment. Confirms that brain creatine levels rise with therapy over time. NCBI
Non-pharmacological treatments
Important: These support—not replace—creatine monohydrate, which is the proven core therapy in AGAT deficiency. Early, combined care works best. NCBI
Physiotherapy & rehabilitation ( items; each ~what/why/how/benefits)
Developmental physiotherapy: guided play and postural training to build head/trunk control, rolling, sitting, and transitions. Purpose: accelerate gross motor milestones. Mechanism: task-specific neuroplasticity. Benefits: better balance, earlier mobility, less hypotonia-related delay.
Core strengthening: child-friendly exercises (bridging, tummy time progressions) to stabilize the trunk. Purpose: improve posture and endurance. Mechanism: muscle hypertrophy and improved motor unit recruitment. Benefits: steadier sitting/standing, more confident walking.
Gait training: treadmill or over-ground practice with cues. Purpose: efficient walking. Mechanism: repetitive stepping sets spinal locomotor patterns. Benefits: longer distances with less fatigue.
Task-oriented fine-motor therapy: grasp, release, bimanual tasks. Purpose: hand skills for self-care/school. Mechanism: cortical-cerebellar practice effects. Benefits: faster dressing, drawing, classroom tasks.
Oro-motor therapy: tongue/lip strength, chewing, saliva control. Purpose: better feeding and speech clarity. Mechanism: targeted neuromuscular retraining. Benefits: safer swallowing, clearer sounds.
Respiratory muscle training (play-based): blowing, bubble pipes, incentive toys. Purpose: endurance and voice support. Mechanism: strengthens inspiratory/expiratory muscles. Benefits: longer play, clearer voice projection.
Balance and vestibular therapy: wobble boards, stepping stones. Purpose: prevent falls. Mechanism: improves sensory integration. Benefits: steadier mobility at home and school.
Stretching & tone management: daily hamstring/calf/hip flexor stretches. Purpose: prevent tightness from hypotonia-related posture. Mechanism: maintains muscle–tendon length. Benefits: smoother gait, fewer aches.
Functional electrical stimulation (as needed): low-level cues to weak muscles during activities. Purpose: augment practice. Mechanism: recruits additional motor units. Benefits: better task carryover (case-by-case).
Endurance conditioning: short, frequent bouts (walking, cycling). Purpose: stamina. Mechanism: mitochondrial and cardiovascular adaptations. Benefits: longer play without fatigue.
Hydrotherapy: buoyancy-assisted movement. Purpose: practice walking/mobility with less load. Mechanism: reduces gravitational demand. Benefits: confidence, range of motion.
Constraint-induced movement practice (if one side lags): gentle, play-based. Purpose: use the weaker side more. Mechanism: cortical re-balancing. Benefits: more symmetrical skills.
Orthotics (if needed): insoles/ankle-foot orthoses for alignment. Purpose: stable gait. Mechanism: mechanical support. Benefits: efficiency, less tripping.
Energy conservation education: pacing, rest breaks. Purpose: match tasks to endurance. Mechanism: load management. Benefits: less fatigue and frustration.
Parent-led home program: short daily routines prescribed by PT/OT/SLP. Purpose: consistency. Mechanism: high-dose practice. Benefits: faster gains between clinic visits.
Mind-body and “gene-therapy-informed” education
Family counseling & care-coordination: helps set realistic goals, schedules therapy, and tracks ¹H-MRS and labs. Benefit: lower stress and better adherence. NCBI
Sleep hygiene coaching: regular timing, screen limits, wind-down. Mechanism: stabilizes neurocognitive function. Benefit: better attention and daytime learning.
Stress-reduction skills for caregivers (breathing, brief mindfulness): supports consistent home programs. Benefit: improved follow-through and family well-being.
Research literacy coaching: explain why creatine is core therapy; clarify that arginine restriction/ornithine are for GAMT deficiency, not for AGAT deficiency, so families do not adopt the wrong diet. Benefit: safe, accurate self-management. NCBI
Educational therapy
Speech-language therapy (early and intensive): expressive/receptive language, motor-speech. Benefit: improved communication and learning. NCBI
Occupational therapy for school readiness: handwriting, scissors, classroom posture. Benefit: independence in school tasks.
Special education supports / IEP: individualized goals and accommodations. Benefit: measurable progress in core subjects. NCBI
Augmentative and alternative communication (AAC) if needed: picture boards/tablet apps to support speech. Benefit: reduces frustration and accelerates language.
Behavioral strategies for attention/organization: visual schedules, chunking, movement breaks. Benefit: better classroom participation.
Parent training in play-based learning: turns daily routines into therapy opportunities. Benefit: more “practice minutes” without extra clinic time.
Drug treatments
Safety note: Doses below are typical reference ranges used by specialists. Individual plans must be set by your clinician based on age, weight, kidney function, and response.
Creatine monohydrate (core therapy).
Class: Nutrient/energy buffer replacement.
Dose: 400–800 mg/kg/day by mouth in 3–6 divided doses (children); adults often continue fixed daily doses per specialist.
When: Start as soon as AGAT deficiency is suspected/confirmed; continue long term.
Purpose: Replenish brain and muscle creatine to support energy transfer and synaptic function.
Mechanism: Raises intracellular phosphocreatine, stabilizes ATP buffering, restores the brain creatine peak on ¹H-MRS.
Side effects: Usually mild—bloating or GI upset; kidney function is monitored annually. NCBICreatine monohydrate (loading then maintenance) — specialist approach.
Some centers employ a short loading phase (e.g., up to 0.3 g/kg/day briefly) then maintenance within the 400–800 mg/kg/day total. Same purpose/mechanism/monitoring as above. (Practice variation synthesized from reviews). NCBITurkish Archives of PediatricsMultivitamin with adequate B-complex.
Class: Supportive; not disease-modifying.
Dose: Age-appropriate RDA.
Purpose: Cover micronutrient gaps to optimize neurodevelopment alongside creatine.
Mechanism: Cofactor sufficiency for cellular metabolism.
Side effects: Rare; follow RDAs. (Supportive logic)Vitamin D3.
Class: Nutrient; neuro-musculoskeletal support.
Dose: Per national guidelines; often 600–1000 IU/day in older children unless deficiency warrants repletion.
Purpose: Bone/muscle health to complement therapy and PT.
Mechanism: Enhances calcium–phosphate metabolism and muscle function.
Side effects: Excess can raise calcium—dose per clinician. (Supportive standard)Omega-3 fatty acids (EPA/DHA).
Class: Nutritional supplement.
Dose: Per pediatric guidance (often 500–1000 mg/day DHA+EPA in school-age; clinician-guided).
Purpose: Support attention/behavior and neural membrane health.
Mechanism: Membrane fluidity, anti-inflammatory signaling.
Side effects: Fishy aftertaste, mild GI upset. (Adjunct; not disease-modifying)Melatonin (if insomnia).
Class: Sleep-regulating hormone.
Dose: Often 1–3 mg (children) 30–60 min before bedtime; titrate with clinician.
Purpose: Improve sleep to aid daytime learning.
Mechanism: Circadian phase support.
Side effects: Morning grogginess in some.Levetiracetam (only if seizures occur).
Class: Antiseizure drug.
Dose: Typically 10–60 mg/kg/day in divided doses; specialist-guided.
Purpose: Control seizures (again, seizures are uncommon in AGAT deficiency).
Mechanism: Modulates synaptic vesicle protein SV2A.
Side effects: Irritability/somnolence in some. (Used across CCDS when needed) NCBIBaclofen (if significant spasticity emerges).
Class: GABA_B agonist antispasticity agent.
Dose: Titrated slowly; specialist-guided.
Purpose: Ease tone to improve comfort/therapy participation.
Mechanism: Reduces spinal reflex excitability.
Side effects: Sedation, hypotonia.Polyethylene glycol (for constipation).
Class: Osmotic laxative.
Dose: As per pediatric protocols.
Purpose: Comfort and feeding adherence.
Mechanism: Draws water into stool.
Side effects: Bloating.Risperidone / Aripiprazole (behavioral dysregulation if severe).
Class: Atypical antipsychotic.
Dose: Low-dose, behavior-specialist guided.
Purpose: Reduce severe irritability/aggression.
Mechanism: Dopamine/serotonin modulation.
Side effects: Weight gain, metabolic effects; careful monitoring.Methylphenidate (attention symptoms, if clearly present).
Class: Stimulant.
Dose: Per ADHD guidelines.
Purpose: Improve attention to enhance therapy learning.
Mechanism: Dopamine/norepinephrine reuptake inhibition.
Side effects: Appetite suppression, insomnia.Coenzyme Q10 (adjunct).
Class: Mitochondrial cofactor supplement.
Dose: Often 2–5 mg/kg/day; clinician-guided.
Purpose: Support cellular energy; may aid stamina.
Mechanism: Electron transport chain cofactor.
Side effects: GI upset (uncommon). (Adjunct; low evidence for AGAT per se)Magnesium (if documented deficiency or cramps).
Class: Mineral.
Dose: Per RDA or deficiency protocol.
Purpose: Neuromuscular relaxation.
Mechanism: NMDA modulation, muscle function.
Side effects: Diarrhea at high doses.L-Carnitine (if low or fatigue prominent).
Class: Fatty-acid transport cofactor.
Dose: Specialist-guided.
Purpose: Support muscle energy use.
Mechanism: Transports long-chain fatty acids into mitochondria.
Side effects: Fishy odor, GI upset. (Adjunct)Folate/B12 repletion (if low).
Class: Vitamins.
Dose: As per deficiency.
Purpose: Neurodevelopmental support.
Mechanism: Methylation pathways.
Side effects: Rare at physiologic dosing.
Why not arginine restriction or ornithine supplementation? Those are for GAMT deficiency (to lower toxic GAA). AGAT deficiency has low GAA, so such diets are not indicated. Creatine alone is the disease-specific therapy for AGAT deficiency. NCBI
Dietary molecular supplements
These do not replace creatine therapy. Evidence for direct disease modification in AGAT deficiency is limited; they are supportive under clinician guidance.
Creatine monohydrate: see drug #1; cornerstone therapy restoring brain/muscle creatine and improving outcomes, especially when started early. NCBI
Omega-3 (EPA/DHA): 500–1000 mg/day DHA+EPA (school-age; clinician-guided). Supports attention/behavior and neuronal membranes.
Vitamin D3: per guidelines; supports bone/muscle, immune tone; check baseline level.
B-complex (B1, B6, B12): RDA dosing; cofactor sufficiency for energy and neurotransmitter metabolism.
Choline: supports acetylcholine synthesis and myelination; dose per age/dietary intake.
Magnesium: RDA or as needed; supports neuromuscular function and sleep.
Zinc: RDA; supports growth and immune balance.
Coenzyme Q10: 2–5 mg/kg/day; mitochondrial support (symptom-targeted).
L-Carnitine: clinician-guided if low or fatigue; transports fatty acids.
Probiotic with fiber: gut comfort; helps constipation that can reduce appetite/therapy tolerance.
(These are supportive; creatine remains the evidence-based disease-specific therapy.) NCBI
Immunity booster / regenerative / stem-cell” drugs
There are no approved immune-booster, regenerative, or stem-cell drugs for AGAT deficiency. The only disease-specific, evidence-based therapy is oral creatine monohydrate. Research in the broader creatine-deficiency field explores novel creatine prodrugs (e.g., diacetyl creatine ethyl ester in lab models) and gene therapy concepts (more advanced for GAMT in animals), but human AGAT-targeted gene therapy is not an approved treatment. Families should avoid unproven stem-cell or “immune” products. NCBIPMC
If your clinician discusses research, it may include:
Creatine analogs/prodrugs to improve brain uptake (preclinical). NCBI
AAV-based gene therapy for related CCDS (shown preclinically in GAMT; conceptually applicable but not available for AGAT). PMC
Surgeries
There is no surgery that treats AGAT deficiency itself. Surgery may be used only for associated problems after careful team review:
Gastrostomy tube (if severe feeding failure): supports nutrition, meds, and growth.
Orthopedic procedures (contracture release, foot alignment) if long-term posture/gait problems persist despite therapy.
Strabismus surgery for significant eye misalignment affecting vision.
ENT tubes (myringotomy) for recurrent ear disease impacting hearing/speech progress.
Dental procedures under sedation for severe oro-motor issues or caries interfering with feeding/therapy.
These are individualized and not routine for AGAT deficiency.
Prevention strategies
Early identification in siblings with biochemical screening and/or GATM testing if a variant is known in the family. NCBI
Start creatine promptly once AGAT deficiency is diagnosed. NCBI
Regular follow-ups with metabolic and rehab teams; track development and therapy goals. NCBI
Annual kidney function tests while on creatine. NCBI
Adherence to daily dosing (set timers; school dose forms if needed). NCBI
Use ¹H-MRS as advised to monitor brain creatine restoration. NCBI
IEP/education supports to keep learning on track. NCBI
Vaccinations and illness prevention (good sleep, hand hygiene) to protect stamina for therapy. (Standard pediatric care)
Avoid confusing diets (do not use arginine restriction/ornithine protocols—those are for GAMT, not AGAT). NCBI
Family planning support (carrier testing, prenatal/preimplantation options) for future pregnancies. NCBI
When to see doctors (red flags and routine care)
Right away if your child has regression (losing skills), new seizure-like spells, worsening weakness, or feeding problems.
Soon if language or motor milestones stall despite therapy, or if school concerns increase.
Regularly for the metabolic clinic (to adjust creatine dose, monitor kidney function), neurology (only if events suggest seizures), and rehab teams (PT/OT/SLP). NCBI
Foods / diet tips
There is no special restrictive diet for AGAT deficiency. Creatine supplementation is the essential therapy. Do not copy GAMT diets (arginine restriction/ornithine) for AGAT. NCBI
Eat more of:
Balanced meals with quality protein (eggs, dairy, poultry, fish, legumes) to support growth.
Hydrating fluids to help GI comfort with creatine.
High-fiber fruits/vegetables/whole grains to prevent constipation.
Omega-3 sources (fatty fish, walnuts) for general neural support.
Calcium + vitamin D foods (dairy/fortified) for bones and muscle function.
Limit/avoid:
- Ultra-processed snacks that displace nutrient-dense foods.
- Sugary drinks that worsen appetite and energy dips.
- Excess caffeine in adolescents (sleep disruption hurts learning).
- High-dose “fitness” creatine blends with additives—stick to pure creatine monohydrate from a reliable source and dosing prescribed by your clinician.
- Self-directed amino acid restrictions (e.g., arginine restriction) — not indicated in AGAT deficiency. NCBI
Frequently asked questions
Is AGAT deficiency treatable?
Yes. Creatine monohydrate is the proven treatment. Earlier start gives better cognitive outcomes. NCBIHow is it different from GAMT deficiency?
GAMT has high GAA and often seizures; therapy adds ornithine and arginine/protein restriction. AGAT has low GAA and usually no seizures; therapy is creatine alone. NCBIHow is it different from the creatine transporter defect (SLC6A8)?
Transporter defect blocks creatine entry into brain cells (often severe, especially in males); treatment differs and may include arginine/glycine with creatine. NCBIHow is AGAT deficiency diagnosed?
Low GAA and low/low-normal creatine/creatinine; absent/low brain creatine on ¹H-MRS; GATM gene testing. NCBIWhat dose of creatine is used?
Typically 400–800 mg/kg/day (children) in 3–6 divided doses, with annual kidney checks. NCBIHow soon does creatine help?
Muscle strength and stamina may improve within weeks to months; language/cognition improve more if therapy starts very early. NCBIWill my child need medicines for seizures?
Seizures are uncommon in AGAT deficiency. If they occur, standard antiseizure drugs are used by neurology. NCBIDo we need a special diet?
No special restriction is needed. Do not follow GAMT diets; focus on balanced nutrition and creatine adherence. NCBIHow is progress monitored?
Clinic visits for development/education plans, ¹H-MRS to check brain creatine restoration, and annual kidney function tests. NCBICan adults benefit from starting creatine late?
Adults may gain muscle benefits; cognitive gains are smaller when treatment begins after many years, but therapy is still recommended. NCBIIs creatine safe long term?
Generally well tolerated; annual kidney function is advised. NCBIWhat about “stem cells” or “gene therapy” now?
Not available for AGAT deficiency. Some preclinical work exists in related CCDS; outside studies, these are not treatments. PMCCould a sibling be affected?
Yes; risk is 25% if both parents are carriers. Early testing enables early treatment. NCBIWhere can I learn more?
See GeneReviews and patient groups like the Association for Creatine Deficiencies for family-friendly guides. NCBIAssociation for Creatine DeficienciesWhat outcomes can we hope for?
With early creatine therapy, some children achieve near-normal development, especially if started in infancy; later start still helps muscles but may not fully normalize cognition. NCBI
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: September 10, 2025.
