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  • Title: GM3 gangliosidosis: a novel human sphingolipodystrophy.
    Author: Maclaren NK, Max SR, Cornblath M, Brady RO, Ozand PT, Campbell J, Rennels M, Mergner WJ, Garcia JH.
    Journal: Pediatrics; 1976 Jan; 57(1):106-10. PubMed ID: 813179.
    Abstract:
    A male infant of nonconsanguinous Jewish parents had clinical features of pseudo-Hurler's syndrome. A maternal uncle with similar features had previously died at 21/2 months of age. Following death at 3 1/2 months of age, analysis of the patient's brain and liver revealed increased amounts of ganglioside GM3, a virtual absence of higher ganglioside homologues (GM3, GM1, GD1a, and GT1) and a deficiency of the biosynthetic enzyme, UDP-Gal NAc:GM3 N-acetylgalactosaminyl-transferase. Since the biochemical findings denote a novel state of ganglioside deficiency, clinical findings emphasizing points of distinction from other causes of pseudo-Hurler's syndrome are presented.
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