Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotype.
Isolated deficiency of the lysosomal hydrolase acid neuraminidase results in multisystem storage of sialic acid-rich oligosaccharides. Wide phenotypic diversity occurs within this biochemical defect. We studied three cases of an infantile form of mucolipidosis I in which the phenotype is dominated by severe Hurloid features. These patients excreted excessive amounts of sialic acid-rich oligosaccharides in their urine, and storage of similar compounds was shown in tissues and cultured fibroblasts. Cultured fibroblasts demonstrated an isolated deficiency of acid neuraminidase; beta-galactosidase levels were normal.
D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009081:Mucolipidoses / Q000201:enzymology / Q000235:genetics*; D009439:Neuraminidase / Q000172:deficiency; D010641:Phenotype
D009439:Neuraminidase