5.1
Disorders of vitamin and cofactor metabolism
This group includes disorders affecting the biosynthesis and transport of vitamins and cofactors such as tetrahydrobiopterin, thiamine (vitamin B1), riboflavin (vitamin B2), niacin and nicotinamide (vitamin B3), pantothenate (vitamin B5) and coenzyme A, pyridoxine (vitamin B6), biotin (vitamin B7), folate (vitamin B9), cobalamin (vitamin B12) and molybdenum cofactor.
Autosomal recessive GTP cyclohydrolase 1 deficiency Autosomal dominant GTP cyclohydrolase 1 deficiency 6-pyruvoyl-tetrahydropterin synthase…
Thiamine transporter 1 deficiency (Thiamine-responsive megaloblastic anemia; Rogers syndrome; thiamine metabolism dysfunction…
Riboflavin transporter 1 deficiency (Transient riboflavin deficiency) Riboflavin transporter 2…
Nicotinamide mononucleotide adenylyl transferase 1 deficiency (Leber congenital amaurosis 9) NAD synthetase…
Pantothenate kinase 2 deficiency (Pantothenate kinase-associated neurodegeneration – PKAN; neurodegeneration…
Alpha-aminoadipic semialdehyde dehydrogenase deficiency (Pyridoxine-dependent epilepsy) Pyridoxamine 5′-phosphate oxidase deficiency…
Biotinidase deficiency Holocarboxylase synthetase deficiency Sodium-dependent multivitamin transporter deficiency
Proton-coupled folate transporter deficiency (Hereditary folate malabsorption) Folate receptor alpha…
Hereditary intrinsic factor deficiency Cubilin deficiency (Imerslund-Gräsbeck disease, Finnish type)…
Cyclic pyranopterin monophosphate synthase deficiency (Molybdenum cofactor deficiency type A)…
Alpha-tocopherol transfer protein deficiency (Ataxia with isolated vitamin E deficiency)…
Subnetworks
NOMS
Disorders of neuromodulators and other small molecules
