GM3 gangliosidosis: a novel human sphingolipodystrophy.
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.
D001921:Brain / Q000201:enzymology / Q000378:metabolism; D005732:Gangliosides / Q000378:metabolism; D005733:Gangliosidoses / Q000175:diagnosis* / Q000201:enzymology / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000378:metabolism; D008297:Male
D005732:Gangliosides