5C59.01
category
Disorders of pterin metabolism
Definition
Any condition caused by failure to correctly metabolize pterin.
Also indexed as
6-pyruvoyl-tetrahydropterin synthase deficiencyDHPR - [Dihydropteridine reductase] deficiencyDehydratase deficiencyDihydropteridine reductase deficiencyDisorders of pterin metabolismGTP cyclohydrolase 1 deficiencyGTPCH deficiencyGuanosine-5-triphosphatase cyclohydrolase deficiencyHyperphenylalaninaemia due to GTP cyclohydrolase deficiencyHyperphenylalaninaemia due to dehydratase deficiencyHyperphenylalaninaemia due to pterin-4-alpha-carbinolamine dehydratase deficiencyHyperphenylalaninaemia with neopterin deficiencyMalignant hyperphenylalaninaemia due to BH4 deficiencyMalignant hyperphenylalaninaemia due to tetrahydrobiopterin deficiencyMotor or cognitive disorder due to sepiapterin reductase deficiencyPTPS - [6-pyruvoyl-tetrahydropterin synthase] deficiencyPrimapterinuriaPterin-4-carbinolamine dehydratase deficiency