Deficiency of Methylcysteine Synthase
Deficiency of methylcysteine synthase is another name for cystathionine beta-synthase (CBS) deficiency, also called classic homocystinuria. In this disease, a body enzyme (CBS) that normally changes ...
Rx Blood, Metabolism, and Infectious Diseases (A – Z)
Deficiency of Beta-Thionase
Deficiency of beta-thionase is almost always talking about beta-ketothiolase deficiency, also called mitochondrial acetoacetyl-CoA thiolase deficiency or ACAT1 deficiency. In this rare genetic ...
Deficiency of Uridine Triphosphate-Hexose-1-Phosphate Uridylyltransferase
Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (also called galactose-1-phosphate uridylyltransferase, GALT) is a rare genetic disease. In this disease, the body cannot ...
Deficiency of Uridine Diphosphate-Glucose–Hexose-1-Phosphate Uridylyltransferase
Deficiency of uridine diphosphate-glucose–hexose-1-phosphate uridylyltransferase means that the body is missing or has very low activity of an enzyme called galactose-1-phosphate uridyltransferase ...
Deficiency of UDP-Glucose–Hexose-1-Phosphate Uridylyltransferase
Deficiency of UDP-glucose–hexose-1-phosphate uridylyltransferase means the body is missing or has very low activity of an enzyme called galactose-1-phosphate uridylyltransferase (GALT). This enzyme ...
CIDEC-Related Familial Partial Lipodystrophy
CIDEC-related familial partial lipodystrophy is a very rare inherited disease where body fat is not spread in a normal way. In this condition, fat under the skin is missing in some parts of the body, ...
Chuvash Erythrocytosis
Chuvash erythrocytosis is a rare, inherited blood disease where the body makes too many red blood cells from birth and throughout life. It is caused by a change (mutation) in a gene called VHL, which ...
Chronic Mucocutaneous Candidiasis (CMC)
Chronic mucocutaneous candidiasis (CMC) is a long-lasting infection with Candida (a yeast or fungus) that keeps coming back on the skin, nails, and wet body surfaces like the mouth, throat, and ...
Neonatal-Onset Multisystem Inflammatory Disease (NOMID)
Neonatal-onset multisystem inflammatory disease (NOMID) is a very rare genetic disease where the immune system is “over-active” from birth and causes strong, long-lasting inflammation in many parts ...
Chronic Diarrhea with Villous Atrophy
Chronic diarrhea with villous atrophy means a person has loose or watery stools that last for more than four weeks, and a biopsy from the small intestine shows that the “villi” are flat or damaged. ...
Maltase-Glucoamylase Deficiency
Maltase-glucoamylase deficiency is a rare problem in the small intestine where the body cannot properly break down starch (long chains of glucose) into single sugar units. Because the enzyme ...
Chronic Diarrhea due to Glucoamylase Deficiency
Chronic diarrhea due to glucoamylase deficiency is a rare gut disease where the small intestine does not have enough of the enzyme glucoamylase (also called maltase-glucoamylase). This enzyme ...
Mossy Foot Disease
Mossy foot disease is a long-term swelling of the feet and lower legs that happens when people walk barefoot for many years on special irritant soils, usually red volcanic clay in highland tropical ...
Chromoblastomycosis
Chromoblastomycosis is a long-lasting (chronic) fungal infection that affects the skin and the tissue just under the skin (subcutaneous tissue). In this disease, special dark (pigmented) fungi from ...
Chromomycosis
Chromomycosis (more correctly called chromoblastomycosis) is a long-lasting fungal infection of the skin and the layer of fat just under the skin. It happens when special dark-colored fungi from ...
Chorea Remitting, with Nystagmus and Cataract
Chorea, remitting, with nystagmus and cataract is an extremely rare, inherited brain and eye condition. It causes three main problems in the same child: chorea (fast, jerky, dance-like movements), ...
Levine–Critchley Syndrome
Levine–Critchley syndrome is an old name for a rare brain and blood disease that doctors now usually call chorea-acanthocytosis or VPS13A disease. It is a lifelong (chronic) genetic disease. It ...
Osteochondrodysplasia
Osteochondrodysplasia means a group of rare conditions where the bones and cartilage do not grow and develop in a normal way. “Osteo” means bone, “chondro” means cartilage, and “dysplasia” means ...
Blomstrand Lethal Chondrodysplasia
Blomstrand lethal chondrodysplasia is a very rare, very severe genetic bone disease that affects a baby before birth and around the time of birth. In this condition, the baby’s bones harden too early ...
Hereditary Calcium Pyrophosphate Deposition (CPPD)
Hereditary calcium pyrophosphate deposition (CPPD) is a rare joint disease that runs in families. In this condition, tiny crystals made from calcium pyrophosphate build up inside the cartilage and ...
Familial Calcium Pyrophosphate Dihydrate Deposition Disease
Familial calcium pyrophosphate dihydrate deposition disease (familial CPPD) is a rare inherited type of arthritis in which tiny calcium pyrophosphate crystals build up inside the cartilage and lining ...
Familial Calcium Pyrophosphate Deposition Disease
Familial Calcium Pyrophosphate Deposition Disease (familial CPPD) is a rare inherited joint disease in which tiny calcium pyrophosphate crystals build up inside the cartilage and soft tissue of the ...
Calcium Pyrophosphate Dihydrate Crystal Deposition Disease (CPPD)
Calcium pyrophosphate dihydrate crystal deposition disease (CPPD), also called pseudogout, happens when tiny calcium pyrophosphate crystals build up in the joint cartilage and soft tissues. These ...
Chondrocalcinosis
Chondrocalcinosis means there are calcium crystals sitting inside the cartilage of a joint. Cartilage is the smooth, rubbery tissue that covers the ends of bones and helps the joint move easily. In ...
Codman’s Tumor
Codman’s tumor is an older name for chondroblastoma, a rare, usually benign bone tumor that grows from immature cartilage-forming cells called chondroblasts at the end of long bones, close to the ...
Lysosomal Acid Lipase Deficiency (LAL-D)
Lysosomal acid lipase deficiency (LAL-D) is a rare inherited disease in which the body cannot make enough of an enzyme called lysosomal acid lipase. This enzyme normally breaks down special fats ...
Cholesterol Ester Hydrolase Deficiency
Cholesterol ester hydrolase deficiency is an old name for a rare genetic disease in which the body does not make enough of an enzyme called lysosomal acid lipase (LAL). This enzyme’s job is to break ...
Vibrio Cholerae Infectious Disease
Vibrio cholerae infectious disease, usually called cholera, is an acute (very sudden) diarrheal illness caused by a spiral-shaped, gram-negative bacterium that lives in water and gets into the body ...
Cholera
Cholera is a very fast, very watery type of diarrhea caused by a germ called Vibrio cholerae that lives in contaminated water or food. The germ makes a toxin in the small intestine that pulls large ...
Chikungunya Virus Infectious Disease
Chikungunya virus infectious disease is an illness caused by a tiny germ called the chikungunya virus. This virus enters the human body mainly through the bite of an infected Aedes mosquito, the same ...
Chikungunya Virus Disease or Disorder
Chikungunya Virus Disease or Disorder is caused by the chikungunya virus. This virus is an RNA virus in the alphavirus group of the Togaviridae family. It spreads to people through the bite of ...
Hemorrhagic Fever Caused by Chapare Virus
Hemorrhagic fever caused by Chapare virus is a rare but very serious viral illness. It is caused by a virus called Chapare virus, which belongs to a group of viruses known as arenaviruses. The virus ...
Chapare Hemorrhagic Fever
Chapare hemorrhagic fever is a rare but very serious viral illness caused by the Chapare virus, which belongs to the mammarenavirus group in the Arenaviridae family. The virus was first identified in ...
Soft Chancre Chancroid
Soft chancre, also called chancroid, is a sexually transmitted infection (STI) that causes very painful sores (ulcers) on the genitals or nearby skin. It is caused by a bacterium called Haemophilus ...
Ducrey’s Chancre
Ducrey’s chancre is a painful open sore on the genital area that happens because of a sexually transmitted infection called chancroid. The infection is caused by a bacteria named Haemophilus ducreyi. ...
Chancroidal Bubo
Chancroidal bubo means a swollen, painful group of lymph nodes in the groin that happens because of chancroid, a sexually transmitted infection caused by the bacteria Haemophilus ducreyi. The germs ...
Chancroid
Chancroid is a sexually transmitted infection (STI) caused by a bacteria called Haemophilus ducreyi. It mainly affects the skin and tissues of the genital area and sometimes the nearby groin. The ...
Ceroid Lipofuscinosis Neuronal, 4 (Kufs Type)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type), often shortened to CLN4 disease, is a very rare inherited brain disease. It mainly affects the nervous system (the brain and spinal cord). Over time, ...
Arginine Vasopressin Deficiency (AVP-D)
Arginine vasopressin deficiency (AVP-D) is a condition where your body does not make enough of the hormone arginine vasopressin (also called antidiuretic hormone, ADH). This hormone normally helps ...
CEBPE-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome is a condition where a change (variant) in the CEBPE gene affects how neutrophils (a main “first-response” white ...
Blastic NK-Cell Leukemia/Lymphoma
Blastic NK-cell leukemia/lymphoma” was often used for a very aggressive blood cancer that looks like leukemia (blood and bone marrow disease) and/or lymphoma (tumor masses), and very often starts in ...
Congenital Disorder of Glycosylation Type iio
Congenital disorder of glycosylation type IIo is a very rare genetic condition where the body has trouble doing glycosylation (adding sugar “chains” to proteins). Those sugar chains help proteins ...
CCDC 115-CDG – Coiled-Coil Domain Containing 115 Congenital Disorder of Glycosylation
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 ...
CCDC 115 Congenital Disorder of Glycosylation
CCDC115-CDG (also called congenital disorder of glycosylation type IIo) is a very rare inherited disease where the body has trouble doing a key “sugar-finishing” job called glycosylation. ...
Carbohydrate-Deficient Glycoprotein Syndrome Type IIo
Carbohydrate-deficient glycoprotein syndrome type IIo is now usually called Congenital Disorder of Glycosylation, type IIo (CDG-IIo) or CDG2O. It is a rare inherited (genetic) disease where the body ...
CCDC115-CDG
CCDC115-CDG is a very rare inherited disorder where the body cannot “decorate” many proteins with sugar chains in the normal way (this process is called glycosylation). These sugar chains help ...
Cayman Cerebellar Ataxia
Cayman cerebellar ataxia (also called cerebellar ataxia, Cayman type) is a rare genetic (inherited) brain condition that usually starts from birth or early infancy. The main problem is that the ...
Tracheopulmonary Myiasis
Tracheopulmonary myiasis means fly larvae (maggots) live inside the breathing tubes or lungs. The larvae may be in the trachea (windpipe), bronchi (main breathing tubes), or deeper in the air ...
Intestinal Myiasis
Intestinal myiasis is a condition where fly larvae (maggots) are inside the stomach or intestines for a short time and may be passed out in stool. Most often, it happens when a person swallows fly ...
Ophthalmomyiasis
Ophthalmomyiasis (also called ocular myiasis) means fly larvae (maggots) get into or onto the eye area. The larvae can stay on the surface (like the conjunctiva), the eyelids, or rarely go deeper ...
Urogenital Myiasis
Urogenital myiasis (also called genitourinary myiasis) is a rare condition where fly larvae (immature flies) are found in or near the urinary or genital area, such as the vulva, vagina, penis, ...
Nasal Myiasis
Nasal myiasis is a condition where fly larvae (maggots) live and grow inside the nose or nearby sinuses. The flies lay eggs around the nostrils or in nasal wounds. When the eggs hatch, the larvae ...
Aural Myiasis
Aural myiasis (also called otomyiasis) means fly larvae (maggots) are living in the ear canal, and sometimes they can reach the middle ear if the eardrum is damaged. It is a medical emergency because ...
Cavitary Myiasis
Cavitary myiasis is a parasitic disease where fly larvae (maggots) live and grow inside natural body openings instead of on the skin surface. These openings can be the ear canal, nose, mouth, eye ...
Double Tachycardia Induced by Catecholamines
Double tachycardia induced by catecholamines is an old name for a rare heart rhythm disease now called catecholaminergic polymorphic ventricular tachycardia (CPVT). In this condition, stress hormones ...
Catastrophic Antiphospholipid Syndrome
Catastrophic antiphospholipid syndrome (CAPS) is a very rare, life-threatening autoimmune blood-clotting disorder. In this condition, the immune system makes harmful antibodies called ...
Debre-Mollaret Syndrome
Debre-Mollaret syndrome is an older name for cat-scratch disease, a bacterial infection of the lymph nodes after contact with an infected cat. It is caused mainly by the bacterium Bartonella ...
Cat-scratch fever
Cat-scratch fever, also called cat-scratch disease, is a bacterial infection that happens after a person is scratched, bitten, or licked on broken skin by a cat that carries a germ called Bartonella ...
Bartonellosis due to Bartonella Henselae Infection
Bartonellosis due to Bartonella henselae is best known as the cause of “cat scratch disease.” It is an infection that usually starts after a scratch, bite, or lick from an infected cat. The germ is a ...
Cat Scratch Disease
Cat scratch disease is a mild to sometimes serious infection that people get after a scratch, bite, or lick from a cat that carries a bacteria called Bartonella henselae. It mainly causes swollen, ...
Carnosinemia
Carnosinemia is a very rare inherited metabolic disease. It happens when the body does not have enough of an enzyme called carnosinase. This enzyme normally breaks down a small protein (a dipeptide) ...
Carnitine-Acylcarnitine Translocase (CACT) Deficiency
Carnitine-acylcarnitine translocase (CACT) deficiency is a rare inherited disorder of fat breakdown (fatty-acid β-oxidation). The CACT protein sits in the inner wall of the mitochondria (the cell’s ...
Late-onset Carnitine Palmitoyltransferase II (CPT II) Deficiency
Late-onset Carnitine Palmitoyltransferase II (CPT II) Deficiency is an inherited problem in the way muscles burn long-chain fats for energy. The CPT2 gene makes an enzyme (CPT II) that sits on the ...
Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency
Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency is a rare, inherited metabolic disorder that blocks the body from using certain fats (long-chain fatty acids) for energy. Normally, a protein ...
Carbamoyl Phosphate Synthetase I (CPS1) Deficiency Disease
Carbamoyl Phosphate Synthetase I (CPS1) deficiency is a rare, inherited problem of the urea cycle. The urea cycle is the liver’s “nitrogen-cleaning” system. It turns extra nitrogen (from protein ...
Aspartoacylase Deficiency (Canavan Disease)
Aspartoacylase deficiency is a rare, inherited brain disorder in which a single enzyme—called aspartoacylase (ASPA)—does not work properly. This enzyme normally breaks down a natural brain chemical ...
Calciphylaxis
Calciphylaxis is a rare but very serious disease of small blood vessels in the skin and fat. Calcium builds up in the walls of tiny arterioles. The vessels become narrowed and blocked. Blood cannot ...
Deficiency of Benzoylcholinesterase
Benzoylcholinesterase (also called pseudocholinesterase or butyrylcholinesterase) is an enzyme made in the liver and released into your blood. Its job is to help break down some anesthesia drugs, ...
Post-Anesthetic Apnea due to Butyrylcholinesterase (BCHE) Deficiency
Post-anesthetic apnea due to BCHE deficiency means a person has a much slower breakdown of certain anesthesia muscle-relaxing drugs—mainly succinylcholine (also called suxamethonium) and mivacurium. ...
Butyrylcholinesterase (Pseudocholinesterase) Deficiency
Butyrylcholinesterase (BChE) deficiency—also called pseudocholinesterase deficiency—is a condition in which the blood enzyme that breaks down certain anesthesia drugs works poorly or is missing. ...
Searle’s Ulcer
Searle’s ulcer is an infection of the skin and the tissue under the skin caused by a bacterium called Mycobacterium ulcerans. It starts as a firm, painless lump or swelling and, over weeks, the skin ...
Mossman Ulcer
Mossman ulcer is a slow-growing bacterial infection that starts as a painless lump, patch, or swelling under the skin. Over weeks, the skin thins and breaks down into a painless open sore (ulcer) ...
Daintree Ulcer
Daintree ulcer is a skin infection that makes a painless lump or swelling that slowly turns into a deep ulcer (open sore). It is caused by a germ called Mycobacterium ulcerans. This germ lives in the ...
Cutaneous Mycobacterium Ulcerans Infection
Cutaneous Mycobacterium ulcerans infection, also called Buruli ulcer, is a skin disease caused by a slow-growing bacterium named Mycobacterium ulcerans. The germ makes a toxin called mycolactone. ...
Bairnsdale Ulcer
Bairnsdale ulcer is a skin and soft-tissue infection caused by a bacterium named Mycobacterium ulcerans. The germ makes a toxin called mycolactone that damages fat under the skin. This damage starts ...
Buruli Ulcer
Buruli ulcer is a long-lasting skin infection caused by a bacterium called Mycobacterium ulcerans. The germ makes a toxin (mycolactone) that quietly destroys skin, fat, and sometimes bone. Because ...
Budd–Chiari Syndrome
Budd–Chiari syndrome means the blood leaving your liver through the hepatic veins (and sometimes the nearby inferior vena cava) is blocked. The blockage is usually a blood clot (primary BCS). Less ...
Bubonic Plague
Bubonic plague is a severe bacterial infection caused by Yersinia pestis. It usually spreads to people through the bite of infected fleas that live on wild rodents (like rats, squirrels, prairie ...
Bruton Tyrosine Kinase (BTK) Deficiency
Bruton tyrosine kinase (BTK) deficiency is a rare, inherited immune disorder. It mainly affects boys. The body cannot make mature B lymphocytes (B cells), the white blood cells that produce ...
Bruton Agammaglobulinemia Tyrosine Kinase Deficiency
Bruton agammaglobulinemia tyrosine kinase deficiency is a genetic condition that mainly affects boys. A change (mutation) in a gene on the X chromosome called BTK (Bruton’s tyrosine kinase) stops B ...
X-Linked Recessive Agammaglobulinemia
X-Linked Recessive Agammaglobulinemia is a rare genetic condition that mainly affects boys and stops the body from making antibodies. Antibodies are proteins that help you fight germs. In XLA, a ...
Bruton-Type Agammaglobulinemia
Bruton-type agammaglobulinemia is a genetic immune system disease in which the body cannot make mature B-cells and, therefore, makes almost no antibodies (immunoglobulins). This happens because ...
Monoamine Oxidase A Deficiency
Monoamine oxidase A deficiency is a very rare genetic condition that mostly affects boys and men. People with this condition have lower activity of an enzyme called monoamine oxidase A (MAO-A). This ...
Undulant Fever (Human Brucellosis)
Undulant fever—also called brucellosis or Malta fever—is a bacterial infection you can get from contact with infected animals or from eating or drinking unpasteurized milk, cheese, or undercooked ...
Maltese Fever
Maltese fever is an infection in humans caused by Brucella bacteria. These germs live mainly in animals such as goats, sheep, cows, pigs, and dogs. People get infected when they drink raw ...
Brucellosis
Brucellosis is an infection you get from Brucella bacteria. People are usually infected by unpasteurized milk or dairy, or by touching infected animals or animal fluids without protection. It can ...
Sabia Hemorrhagic Fever (Sabiá Virus Disease)
Sabiá hemorrhagic fever is a rare but severe viral illness caused by the Sabiá virus, a New World mammarenavirus (family Arenaviridae). It can lead to high fever, bleeding problems, low platelets, ...
Brain Monoamine Vesicular Transport Disease (VMAT2 Deficiency)
Brain monoamine vesicular transport disease is the rare genetic condition also called brain dopamine–serotonin vesicular transport disease, VMAT2 deficiency, or PKDYS2, caused by biallelic pathogenic ...
Brain Dopamine-Serotonin Vesicular Transport Disease
Brain dopamine-serotonin vesicular transport disease is a very rare genetic condition where a tiny “transport pump” in brain cells—called VMAT2—does not work well. VMAT2 normally packs dopamine and ...
Lame Sickness
Lame Sickness is a rare but dangerous illness. It happens when a nerve poison (toxin) made by Clostridium botulinum blocks signals from nerves to muscles. Muscles then become weak and floppy. ...
Infection Caused by Clostridium Botulinum
Botulism is a rare but very serious illness caused by a nerve poison (botulinum neurotoxin) made by the bacterium Clostridium botulinum. The toxin blocks nerve signals to muscles. That makes muscles ...
Botulism Poisoning
Botulism is a rare but very serious kind of food-, wound-, or gut-related poisoning. It happens when a nerve poison (called botulinum toxin) gets into your body. This poison is made by bacteria named ...
Botulism
Botulism is a rare but very serious poisoning of the nerves. It happens when a powerful toxin (poison) made by Clostridium botulinum and a few related bacteria gets into the body. The toxin blocks ...
Connective Tissue Disorder due to Lysyl Hydroxylase-3 Deficiency (PLOD3-Related Disorder)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency (PLOD3-related disorder) is a rare genetic disease that affects the body’s collagen—the “scaffolding” protein that gives strength and ...
Machupo Hemorrhagic Fever
Machupo hemorrhagic fever is a severe viral illness that affects the whole body. The virus is called Machupo virus, an arenavirus. People usually get infected after breathing in tiny particles from ...
Bolivian Hemorrhagic Fever (BHF)
Bolivian hemorrhagic fever is a severe viral illness that happens in parts of Bolivia. The virus that causes it is called Machupo virus. This virus belongs to the arenavirus family, the same broad ...
Body Skin Hyperlaxity due to Vitamin K-Dependent Coagulation Factor Deficiency
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare inherited skin and blood-clotting disorder. The skin over the trunk and limbs becomes very loose and ...
Congenital Telangiectatic Erythema
Congenital telangiectatic erythema is an inherited disorder that starts at birth and involves the skin, growth, the immune system, the endocrine system, and cancer risk. The hallmark is a red, ...
Bloom Syndrome
Bloom syndrome is a very rare inherited condition that makes a person’s DNA less stable than usual. DNA is the instruction code in every cell. In Bloom syndrome, a gene called BLM does not work ...
Bleeding Diathesis due to Thromboxane Synthesis Deficiency.
Bleeding diathesis due to thromboxane synthesis deficiency is a rare bleeding problem. It happens when platelets do not make enough thromboxane A₂ (TXA₂), or cannot use TXA₂ the right way. ...
Granulomatosis
Granulomatosis means “a body condition where many granulomas form.”A granuloma is a small, tight cluster of immune cells that the body builds when it cannot easily clear something—like a germ, a tiny ...
KCNK9 (Potassium Two-Pore Domain Channel, Subfamily K, Member 9) Imprinting Syndrome
KCNK9 (potassium two-pore domain channel, subfamily K, member 9) imprinting syndrome is a very rare genetic condition present from birth. It happens when the working (maternally expressed) copy of ...
Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome
Intellectual disability–hypotonia–facial dysmorphism syndrome is an umbrella description doctors use when a child (or adult) has (1) intellectual disability or global developmental delay (learning ...
Birk-Barel Type Intellectual Disability
Birk-Barel type intellectual disability is a very rare genetic neurodevelopmental condition caused by changes (variants) in a gene called KCNK9. The KCNK9 gene normally helps brain cells control ...
Birk-Barel Intellectual Disability Dysmorphism Syndrome
Birk-Barel intellectual disability dysmorphism syndrome is a very rare genetic condition. It mainly affects the brain and the muscles. Babies are born with weak muscle tone (called hypotonia). They ...
Microcephalic Primordial Dwarfism, Montreal Type
Microcephalic primordial dwarfism, Montreal type is an extremely rare genetic condition. Children have very short height that affects the whole body (proportionate short stature) and a small head ...
Bird-Headed Dwarfism, Montreal Type
Bird-headed dwarfism, Montreal type is an extremely rare, multi-system genetic disorder first described in Montreal in 1970. It causes very short stature (dwarfism) that becomes obvious after birth, ...
late-Onset Multiple Carboxylase Deficiency (MCD)
Late-onset multiple carboxylase deficiency is a rare, inherited problem of biotin (vitamin B7) use and recycling. Biotin is a helper for several enzymes called carboxylases. These enzymes are needed ...
Juvenile-Onset Multiple Carboxylase Deficiency (MCD)
Juvenile-onset multiple carboxylase deficiency (MCD) is an umbrella term for problems in the body’s biotin system. Biotin is a vitamin (vitamin B7) that helps important enzymes, called carboxylases, ...
Biotinidase Deficiency
Biotinidase deficiency is a genetic condition that stops the body from recycling biotin, a B-vitamin that enzymes need to turn food into energy and to make fats and other important molecules. In ...
Thiamine-Responsive Encephalopathy
Thiamine-responsive encephalopathy is a brain disorder where a shortage of usable thiamine inside brain cells causes swelling and injury in key deep brain areas (especially the basal ganglia). In the ...
Thiamine Transporter-2 Deficiency
Thiamine transporter-2 deficiency is a rare, inherited brain-energy disorder. It happens when a person inherits harmful changes (variants) in a gene called SLC19A3. This gene makes a protein ...
