5.01.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)
Subnetworks
NOMS
Disorders of neuromodulators and other small molecules
