Disorders of pterin metabolism

Description

Any condition caused by failure to correctly metabolize pterin.

Index terms

Disorders of pterin metabolism
Malignant hyperphenylalaninaemia due to tetrahydrobiopterin deficiency
Malignant hyperphenylalaninaemia due to BH4 deficiency

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

Exclusions from above levels

http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
5A71.01 – Congenital adrenal hyperplasia

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5A81.1 – 5-alpha-reductase deficiency
LD28.01 – Marfan syndrome
LD28.1 – Ehlers-Danlos syndrome
LD2A.4 – androgen resistance syndrome
18 – Pregnancy, childbirth or the puerperium
http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

5C59.00 – Disorders of catecholamine synthesis
5C59.0Y – Other specified disorders of biogenic amine metabolism
5C59.0Z – Disorders of biogenic amine metabolism, unspecified

Foundation entity

Disorders of pterin metabolism – http://id.who.int/icd/entity/1801446733

Part of: 5C59.0: Disorders of biogenic amine metabolism › 5C59: Inborn errors of neurotransmitter metabolism › 05: Endocrine, nutritional or metabolic diseases