Details of Disease | DrugMAP

General Information of Disease (ID: DIS2N2VS)

Disease Name	GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Synonyms	GTP cyclohydrolase I deficiency; HPABH4B; hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency; GTP cyclohydrolase 1 deficiency; hyperphenylalaninemia, BH4-deficient, B; hyperphenylalaninemia due to GTP cyclohydrolase deficiency; GTPCH deficiency; hyperphenylalaninemia, Bh4-deficient, type B
Disease Hierarchy	DISCQU4G: Hyperphenylalaninemia DISFIL4X: GTP cyclohydrolase I deficiency DIS2N2VS: GTP cyclohydrolase I deficiency with hyperphenylalaninemia

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GCH1	TTLSWP6	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GCH1	OTOZ6NSL	Definitive	Autosomal recessive	[1]
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References

1	Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency. Neurology. 2003 Jan 28;60(2):335-7. doi: 10.1212/01.wnl.0000044049.99690.ad.