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Mucolipidosis I (Acid Neuraminidase Deficiency)

1981; American Medical Association; Volume: 135; Issue: 8 Linguagem: Inglês

10.1001/archpedi.1981.02130320017006

2374-3018

Thaddeus E. Kelly,

Calcium signaling and nucleotide metabolism

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.