Ontology highlight
ABSTRACT:
SUBMITTER: AbdulKarim FAJ
PROVIDER: S-EPMC8340040 | biostudies-literature | 2021 Dec
REPOSITORIES: biostudies-literature
AbdulKarim Fatema A J FAJ Ibrahim Safwat M SM Hill Arnold Ad AA Ajmal Nadeem N
JPRAS open 20210618
Ochronosis is a syndrome characterized by bluish black discoloration due to the deposition of polymerized products of homogentisic acid (HGA) in the connective tissues. The endogenous variety (alkaptonuria), is a rare autosomal recessive metabolic disorder. The disorder is manifested by deficiency of the enzyme homogentisate 1,2-dioxygenase. The characteristic of the condition is a triad of pigmentation of skin, cartilage, and sclera; ochronotic arthropathies and homogentisic aciduria (resulting ...[more]