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Three Cases and Delineation of the Variability of the Phenotype

Thaddeus E. Kelly, MD, PhD; Louis Bartoshesky, MD; David J. Harris, MD; Ray G. K. McCauley, MB, FRCR; Murray Feingold, MD

Am J Dis Child. 1981;135(8):703-708.

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 Child 1981;135:703-708)

Author Affiliations
Geoffrey Schott

From the Department of Pediatrics, University of Virginia School of Medicine, Charlottesville (Dr Kelly and Ms Schott), Tufts-New England Medical Center, Boston (Drs Bartoshesky, McCauley, and Feingold), and the Department of Pediatrics, University of Missouri School of Medicine, Kansas City (Dr Harris).

Footnotes
Reprint requests to Box 386, University of Virginia School of Medicine, Charlottesville, VA 22908 (Dr Kelly).

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