homogentisic acid

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Related to Homogentisate: PKU
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Noun1.homogentisic acid - an acid formed as an intermediate product of the metabolism of tyrosine and phenylalanine
acid - any of various water-soluble compounds having a sour taste and capable of turning litmus red and reacting with a base to form a salt
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Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria.
A common symptom of alkaptonuria, ochronosis is the result of excess homogentisic acid (HGA) due to the autosomal recessive mutation of the homogentisate 1, 2-dioxygenase (HGO) gene on chromosome 3.
When a patient has such a mutation, he or she manufactures a defective version of the protein homogentisate dioxygenase and, thus, suffers from alkaptonuria.