An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. (DO)
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction
is comprised of a complex set of reactions and/or regulatory events, possibly involving
additional chemicals and/or gene products.
ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria
ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria
ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric | ClinVar Annotator: match by term: Phenylketonuria
ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric | ClinVar Annotator: match by term: Phenylketonuria
ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria
ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria