[Three cases of mucolipidosis type III (author's transl)].
Three cases of mucolipidosis type III in three siblins ranging in age from 4 to 10 years are reported. One of them was severely involved; the other two in a lesser degree. The enzymatic studies performed are exposed, together with a discussion and interpretation of the findings. The concepts regarding the group of metabolic diseases among which mucolipidosis is nowadays included are reviewed. Some characteristics of the enzymatic disorder, origin of the disease, are finally commented.
D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D006867:Hydrolases / Q000032:analysis; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009081:Mucolipidoses / Q000235:genetics*; D009439:Neuraminidase / Q000032:analysis; D012794:Sialic Acids / Q000032:analysis
D012794:Sialic Acids; D006867:Hydrolases; D009439:Neuraminidase
Sialidosis tipo II o mucolipidosis III. A propósito de tres observaciones.