• 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 Child 1981;135:703-708)
Kelly TE, Bartoshesky L, Harris DJ, McCauley RGK, Feingold M. Mucolipidosis I (Acid Neuraminidase Deficiency): Three Cases and Delineation of the Variability of the Phenotype. Am J Dis Child. 1981;135(8):703–708. doi:10.1001/archpedi.1981.02130320017006
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