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4-hydroxyphenylacetic aciduria

^ http://purl.obolibrary.org/obo/HP_0003607


Increased concentration of 4-hydroxyphenylacetic acid in the urine. [ HPO:probinson ]

Term info

database cross reference
  • MSH:C535315
  • UMLS:C1848680
comment

4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria.

definition

Increased concentration of 4-hydroxyphenylacetic acid in the urine.

id

HP:0003607

Term relations