Adenosine deaminase deficiency and chondro-osseous dysplasia.
An in vitro model of ADA deficiency is selectively toxic to cartilage from immature rabbits with a greater effect on growth plate than articular cartilage. The selective toxicity observed appears to be the consequence of ATP depletion. These results support the hypothesis that the chondro-osseous dysplasia observed in patients with ADA deficiency is caused by the disordered metabolism that results from the enzyme deficiency.
D000243:Adenosine Deaminase / Q000172:deficiency* / Q000378:metabolism; D000375:Aging; D000818:Animals; D002358:Cartilage, Articular / Q000201:enzymology / Q000254:growth & development; D004195:Disease Models, Animal; D005097:Exostoses, Multiple Hereditary / Q000201:enzymology*; D006132:Growth Plate / Q000201:enzymology / Q000254:growth & development; D009700:Nucleoside Deaminases / Q000172:deficiency*; D011817:Rabbits
D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase