[Mucolipidosis III. Apropos of a case].
Authors present a case of mucolipidosis III diagnosed in a boy suffering from articular retractions, platyspondylia and a normal mucolysacchariduria. Biochemical characteristics of the lisosomial enzyme, reduced in fibroblasts in culture and increased in biological fluids allow such diagnose. Primary enzyme lack being not yet explained, authors comment upon the hypothesis trying to explain biochemical findings.
D002478:Cells, Cultured; D002648:Child; D005347:Fibroblasts / Q000201:enzymology; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D006867:Hydrolases / Q000032:analysis; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics
D006025:Glycosaminoglycans; D006867:Hydrolases
Mucolipidosis III. A propósito de un caso.