INFANTILE SIALIDOSIS - PHENOCOPY OF TYPE-1 GM1 GANGLIOSIDOSIS DISTINGUISHED BY GENETIC COMPLEMENTATION AND URINARY OLIGOSACCHARIDES

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  • 1 January 1979
    • journal article
    • research article
    • Vol. 31  (6) , 669-679
Abstract
A clinical description of an apparently classical case of type 1 GM1 gangliosidosis is presented. The patient was the firstborn child of 1st cousins. She was diagnosed at 6 wk and died at 6 mo. .beta.-Galactosidase activity was deficient in cultured fibroblasts using [3H]GM1 ganglioside and [3H]ceramide-lactose as substrates. Genetic complementation studies performed after cell fusion between cultured fibroblasts from the patient and from 2 other type 1, 1 type 2 and 1 juvenile GM1 gangliosidosis strain were positive with all strains. Subsequent studies revealed an increased excretion of a sialic acid-containing hexasaccharide in the patient''s cells. The parents'' fibroblasts contained normal levels of .beta.-galactosidase. The case emphasizes the variability of the clinical expression in sialidosis and the importance of demonstrating a primary gene defect in establishing a diagnosis of an inborn error of metabolism.

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