phenylketonuria

Term ID

DOID:9281

Synonyms

• Folling's disease
• maternal phenylketonuria
• phenylalaninemia
• PKU

Definition

An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. (2)

References

• GARD:7383
• ICD9CM:270.1
• MESH:D010661
• MESH:D017042
• NCI:C81315
• OMIM:261600
• ORDO:716
• SNOMEDCT_US_2023_03_01:154735006
• SNOMEDCT_US_2023_03_01:297225000
• UMLS_CUI:C0031485
• UMLS_CUI:C0085547

Ontology

Human Disease   ( DOID:9281 )