5C59.01 Disorders of pterin metabolism

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Any condition caused by failure to correctly metabolize pterin.

Disorders of pterin metabolism
Malignant hyperphenylalaninaemia due to tetrahydrobiopterin deficiency
Malignant hyperphenylalaninaemia due to BH4 deficiency
Dihydropteridine reductase deficiency
DHPR - [Dihydropteridine reductase] deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency
PTPS - [6-pyruvoyl-tetrahydropterin synthase] deficiency
GTP cyclohydrolase 1 deficiency
Hyperphenylalaninaemia due to GTP cyclohydrolase deficiency
GTPCH deficiency
Hyperphenylalaninaemia with neopterin deficiency
Guanosine-5-triphosphatase cyclohydrolase deficiency
Pterin-4-carbinolamine dehydratase deficiency
Hyperphenylalaninaemia due to dehydratase deficiency
Hyperphenylalaninaemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Dehydratase deficiency
Primapterinuria
Motor or cognitive disorder due to sepiapterin reductase deficiency

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