5C59.01
Disorders of pterin metabolism
Distúrbios do metabolimo da pterina
CategoryDefinition
Any condition caused by failure to correctly metabolize pterin.
Index Terms
Disorders of pterin metabolismMalignant hyperphenylalaninaemia due to tetrahydrobiopterin deficiencyMalignant hyperphenylalaninaemia due to BH4 deficiencyDihydropteridine reductase deficiencyDHPR - [Dihydropteridine reductase] deficiency6-pyruvoyl-tetrahydropterin synthase deficiencyPTPS - [6-pyruvoyl-tetrahydropterin synthase] deficiencyGTP cyclohydrolase 1 deficiencyHyperphenylalaninaemia due to GTP cyclohydrolase deficiencyGTPCH deficiencyHyperphenylalaninaemia with neopterin deficiencyGuanosine-5-triphosphatase cyclohydrolase deficiencyPterin-4-carbinolamine dehydratase deficiencyHyperphenylalaninaemia due to dehydratase deficiencyHyperphenylalaninaemia due to pterin-4-alpha-carbinolamine dehydratase deficiencyDehydratase deficiencyPrimapterinuriaMotor or cognitive disorder due to sepiapterin reductase deficiency