Tetrahydrobiopterin metabolic process disease

rare

A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process.

Identifiers: MONDO:0045014
Part of: Disorder of phenylalanine metabolism
Also known as: disorder of tetrahydrobiopterin metabolic process · disorder of tetrahydrobiopterin metabolism · tetrahydrobiopterin metabolism disease

Subtypes

Disease	ID	Subtypes	Genes
GTP cyclohydrolase I deficiency	MONDO:0100184	3	GCH1
Dihydropteridine reductase deficiency	MONDO:0009862		QDPR
Dopa-responsive dystonia due to sepiapterin reductase deficiency	MONDO:0012994		SPR

Rare disease

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