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Related to homogentisic acid: ochronosis, alkaptonuria, alkapton, Homogentisic acid oxidase
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Alkaptonuria (AKU) is a rare metabolic, autosomal recessive disorder in the phenylalanine and tyrosine catabolic pathway that is characterized by the accumulation of homogentisic acid (HGA; homogentisic aciduria) in the body, especially in the connective tissues (cartilage, tendons, and ligaments) (1) Alkaptonuria is caused by mutations in the homogetisate 1.
Pyruvic acid overlaps with phthalic, N-acetylaspartic, and glycolic acids; pyroglutamic acid overlaps with 3-hydroxybutyric acid; phenylpyruvic acid overlaps with orotic and hydroxyisovaleric acids; and p-hydroxyphenyl pyruvic and phenyllactic acids overlap with xanthurenic and homogentisic acids.