tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria

Go to external page http://purl.obolibrary.org/obo/MONDO_0017389


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. [ Orphanet:293284 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:293284 (MONDO:equivalentTo)
  • ICD10:E70.1 (Orphanet:293284)
Subsets

ordo_clinical_subtype

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.

exactMatch

http://www.orpha.net/ORDO/Orphanet_293284

has exact synonym

BH4-responsive HPA/PKU

tetrahydrobiopterin-responsive HPA/PKU

BH4-responsive hyperphenylalaninemia/phenylketonuria

id

MONDO:0017389

Term relations