Details of Disease

General Information of Disease (ID: DISHK5Y6)

Disease Name Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Synonyms BH4-responsive HPA/PKU; tetrahydrobiopterin-responsive HPA/PKU; BH4-responsive hyperphenylalaninemia/phenylketonuria
Definition
Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.
Disease Hierarchy
DISCU56J: Phenylketonuria
DISHK5Y6: Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Disease Identifiers
MONDO ID
MONDO_0017389
UMLS CUI
C5679945
MedGen ID
1842546
Orphanet ID
293284

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
PAH TTGSVH2 Supportive 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
PAH OT6GT2K8 Supportive Autosomal recessive [1]
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References

1 Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. Mol Genet Metab. 2002 Nov;77(3):260-6. doi: 10.1016/s1096-7192(02)00166-x.