Tetrahydrobiopterin synthesis defect

Tetrahydrobiopterin synthesis defect (disorder)

active

Code	`68724006`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

Deficiency of tetrahydrobiopterin
Hyperphenylalanineaemia due to BH4 (tetrahydrobiopterin) deficiency
Hyperphenylalanineaemia due to tetrahydrobiopterin deficiency
Hyperphenylalaninemia due to BH4 (tetrahydrobiopterin) deficiency
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Parents (3)

85995004Autosomal recessive hereditary disorder disorder
237913008Disorder of tetrahydrobiopterin metabolism disorder
68528007Hyperphenylalaninaemia disorder

Children (4)

2379140026-Pyruvoyl-tetrahydrobiopterin synthase deficiency disorder
58256000Dihydropteridine reductase deficiency disorder
23447005GTP cyclohydrolase I deficiency disorder
276261007Pterin-4-carbinolamine dehydratase deficiency disorder