Phenylketonuria
id:
phenylketonuria-185-10279490
title:
Phenylketonuria
text:
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight. Phenylketonuria is an inherited genetic disorder. It is caused by mutations in the PAH gene, which can re
brand slug:
wiki
category slug:
encyclopedia
description:
Amino acid metabolic disorder
original url:
https://en.wikipedia.org/wiki/Phenylketonuria
date created:
2001-04-30T09:02:22Z
date modified:
2024-09-07T18:41:43Z
main entity:
{"identifier":"Q194041","url":"https://www.wikidata.org/entity/Q194041"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/7/7a/L-Phenylalanin_-_L-Phenylalanine.svg","width":232,"height":128}
fields total:
13
integrity:
16