Mucolipidosis I (Acid Neuraminidase Deficiency)
- 1 August 1981
- journal article
- research article
- Published by American Medical Association (AMA) in American Journal of Diseases of Children
- Vol. 135 (8) , 703-708
- https://doi.org/10.1001/archpedi.1981.02130320017006
Abstract
• 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; β-galactosidase levels were normal. (Am J Dis Child1981;135:703-708)This publication has 8 references indexed in Scilit:
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