OnlineIMD
21.1 Disorders of tetrahydrobiopterin metabolism
Type
Group
Disease group(s)
21 Disorders of vitamin and cofactor metabolism
Child entries
DOPA-responsive dystonia
GTP cyclohydrolase 1 deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency
Sepiapterin reductase deficiency
Dihydropteridine reductase deficiency
Pterin-4-alpha-carbinolamine dehydratase deficiency