General Information of Disease (ID: DISYYKL5)

Disease Name BH4-deficient hyperphenylalaninemia A
Synonyms
hyperphenylalaninemia, BH4-deficient, A; hyperphenylalanemia, BH4-deficient, A; hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency; hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency; hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency; hyperphenylalaninemia, BH4-deficient, type A; PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included; BH4-deficient hyperphenylalaninemia A; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency; PTS deficiency; Bh4-deficient hyperphenylalaninemia type A; HPABH4A; 6-pyruvoyl tetrahydropterin synthase deficiency; hyperphenylalaninemia, BH4-deficient A; 6-pyruvoyl-tetrahydropterin synthase deficiency; hyperphenylalaninemia, Bh4-deficient, type a; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
Definition
An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.
Disease Hierarchy
DISCQU4G: Hyperphenylalaninemia
DISYYKL5: BH4-deficient hyperphenylalaninemia A
Disease Identifiers
MONDO ID
MONDO_0009863
MESH ID
C535325
UMLS CUI
C0878676
OMIM ID
261640
MedGen ID
209234
Orphanet ID
13
SNOMED CT ID
237914002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
SPR DEJVDAT Strong Autosomal recessive [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SPR OT1ROA8B Strong Autosomal recessive [1]
PTS OTTYWQXR Definitive Autosomal recessive [2]
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References

1 Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat. 2006 Sep;27(9):870-8. doi: 10.1002/humu.20366.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.