a. Disorders of tetrahydrobiopterin metabolism
- Autosomal recessive GTP cyclohydrolase 1 deficiency
- Autosomal dominant GTP cyclohydrolase 1 deficiency
- 6-pyruvoyl-tetrahydropterin synthase deficiency
- Sepiapterin reductase deficiency
- Dihydropteridine reductase deficiency
- Pterin-4-alpha-carbinolamine dehydratase deficiency (Primapterinuria; maturity-onset diabetes of the young (MODY) with hypomagnesemia and renal magnesium loss)
b. Disorders of thiamine metabolism
- Thiamine transporter 1 deficiency (Thiamine-responsive megaloblastic anemia; Rogers syndrome; thiamine metabolism dysfunction syndrome type 1)
- Thiamine transporter 2 deficiency (Biotin-thiamine-responsive basal ganglia disease; thiamine metabolism dysfunction syndrome type 2)
- Thiamine pyrophosphokinase deficiency (Thiamine metabolism dysfunction syndrome type 5)
- Mitochondrial thiamine pyrophosphate transporter deficiency (Amish lethal microcephaly, thiamine metabolism dysfunction syndrome type 3, severe; bilateral striatal necrosis and progressive polyneuropathy, thiamine metabolism dysfunction syndrome type 4, milder)
c. Disorders of riboflavin metabolism
- Riboflavin transporter 1 deficiency (Transient riboflavin deficiency)
- Riboflavin transporter 2 deficiency (Brown-Vialetto-van Laere syndrome type 2)
- Riboflavin transporter 3 deficiency (Brown-Vialetto-van Laere syndrome type 1)
- Flavin adenine dinucleotide synthetase deficiency
- Mitochondrial flavin adenine dinucleotide transporter deficiency (Riboflavin-responsive exercise intolerance)
d. Disorders of niacin and NAD metabolism
- Nicotinamide mononucleotide adenylyl transferase 1 deficiency (Leber congenital amaurosis 9)
- NAD synthetase 1 deficiency (Vertebral, cardiac, renal, and limb defects syndrome type 3)
- Mitochondrial NAD kinase 2 deficiency (2,4-dienoyl-CoA reductase deficiency with hyperlysinemia)
- NAD(P)HX dehydratase deficiency (CARKD deficiency)
- NAD(P)HX epimerase deficiency (Apolipoprotein A-I binding protein deficiency)
- Nicotinamide nucleotide transhydrogenase deficiency (Glucocorticoid deficiency type 4)
e. Disorders of pantothenate and CoA metabolism
- Pantothenate kinase 2 deficiency (Pantothenate kinase-associated neurodegeneration – PKAN; neurodegeneration with brain iron accumulation type 1)
- Phosphopantothenoylcysteine synthetase deficiency (Autosomal recessive dilated cardiomyopathy)
- Coenzyme A synthase deficiency (Coenzyme A synthase protein-associated neurodegeneration – CoPAN; neurodegeneration with brain iron accumulation type 6)
- Mitochondrial coenzyme A transporter deficiency
f. Disorders of pyridoxine metabolism
- Alpha-aminoadipic semialdehyde dehydrogenase deficiency (Pyridoxine-dependent epilepsy)
- Pyridoxamine 5′-phosphate oxidase deficiency
- Pyridoxal kinase deficiency
- Pyridoxal 5′-phosphate binding protein deficiency (PROSC deficiency)
- Tissue-nonspecific alkaline phosphatase deficiency (Hypophosphatasia)
- Intestinal alkaline phosphatase anchoring deficiency
g. Disorders of biotin metabolism
- Biotinidase deficiency
- Holocarboxylase synthetase deficiency
- Sodium-dependent multivitamin transporter deficiency
h. Disorders of folate metabolism
- Proton-coupled folate transporter deficiency (Hereditary folate malabsorption)
- Folate receptor alpha deficiency (Neurodegeneration due to cerebral folate transport deficiency)
- Folate transporter 1 deficiency
- 5,10-methylenetetrahydrofolate reductase deficiency
- Methylenetetrahydrofolate dehydrogenase 1 deficiency (Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia – CIMAH)
- 5,10-methenyltetrahydrofolate synthetase deficiency (5-formyltetrahydrofolate cycloligase deficiency)
- Dihydrofolate reductase deficiency
- Formimidoyltransferase cyclodeaminase deficiency (Formiminoglutamic aciduria)
- Mitochondrial 10-formyltetrahydrofolate dehydrogenase deficiency
i. Disorders of cobalamin metabolism
- Hereditary intrinsic factor deficiency
- Cubilin deficiency (Imerslund-Gräsbeck disease, Finnish type)
- Amnionless deficiency (Imerslund-Gräsbeck disease, Norwegian type)
- Haptocorrin deficiency (Transcobalamin I deficiency)
- Transcobalamin II deficiency
- Transcobalamin receptor deficiency
- Methylmalonic aciduria and homocystinuria, cblF type
- Methylmalonic aciduria and homocystinuria, cblJ type
- Methylmalonic aciduria and homocystinuria, cblC type
- Epi-cblC
- Methylmalonic aciduria and homocystinuria, cblD type
- Homocystinuria, cblDv1 type
- Methylmalonic aciduria, cblDv2 type
- Methylmalonic aciduria, cblA type
- Methylmalonic aciduria, cblB type
- Methionine synthase reductase deficiency (Homocystinuria-megaloblastic anemia, cblE type)
- Methylmalonic aciduria and homocystinuria, cblX type
- Methylmalonic aciduria and homocystinuria due to ZNF143 deficiency
- Methylmalonic aciduria and homocystinuria due to Ronin deficiency
j. Disorders of molybdenum cofactor metabolism
- Cyclic pyranopterin monophosphate synthase deficiency (Molybdenum cofactor deficiency type A)
- Molybdopterin synthase deficiency (Molybdenum cofactor deficiency type B)
- Molybdopterin synthase sulfurase deficiency
- Gephyrin deficiency (Molybdenum cofactor deficiency type C)
- Molybdenum cofactor sulfurase deficiency (Xanthinuria type 2)
k. Other disorders of vitamin metabolism
- Alpha-tocopherol transfer protein deficiency (Ataxia with isolated vitamin E deficiency)
- Gamma-glutamyl carboxylase deficiency (Combined deficiency of vitamin K-dependent coagulation factors type 1)
- Vitamin K epoxide reductase deficiency (Combined deficiency of vitamin K-dependent coagulation factors type 2)
- Microsomal epoxide hydrolase deficiency (Familial hypercholanemia)
- Menaquinone-4 synthetase deficiency (Schnyder corneal dystrophy)
- L-dehydroascorbate transporter deficiency (GLUT1 deficiency; arterial tortuosity syndrome)
