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Infantile type 2 sialidosis in a Pakistani family — a clinical and biochemical study
Author(s) -
King M.,
Cockburn F.,
MacPhee G. B.,
Logan R. W.
Publication year - 1984
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01801761
Subject(s) - neuraminidase , failure to thrive , cataracts , urine , excretion , medicine , biology , endocrinology , pediatrics , pathology , ophthalmology , biochemistry , enzyme
Abstract Two siblings of consanguineous parents presented in infancy with failure to thrive, mild coarsening of facies, visceromegaly and corneal opacities. One showed reduced hepatic β‐galactosidase activity suggesting a GM 1 ‐gangliosidosis variant. Both patients developed progressive coarsening of facies, slow neurological deterioration, macular cherry‐red spots and punctate cataracts over the first decade. Urine screening with thin layer chromatography revealed abnormal excretion of two slow‐moving oligosaccharide bands and leukocyte and fibroblast neuraminidase activity was grossly reduced. The mother, phenotypically normal, showed levels of neuraminidase compatible with heterozygosity. These patients have primary neuraminidase deficiency. The clinical and biochemical variables are reviewed.