Mucolipidosis I--a sialidosis.
Mucolipidosis I is characterized by Hurler-like features and skeletal dysplasia with a cherry-red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid-containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an alpha-N-acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neuraminidase.
D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D005500:Follow-Up Studies; D006801:Humans; D006867:Hydrolases / Q000378:metabolism; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009081:Mucolipidoses / Q000235:genetics / Q000378:metabolism*; D009439:Neuraminidase / Q000235:genetics / Q000378:metabolism*; D010641:Phenotype; D012794:Sialic Acids / Q000378:metabolism; D012867:Skin / Q000201:enzymology
D012794:Sialic Acids; D006867:Hydrolases; D009439:Neuraminidase