5C59.01Ангилал

Disorders of pterin metabolism

Тодорхойлолт

Any condition caused by failure to correctly metabolize pterin.

Индексийн нэр томьёо Index terms · 18

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

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