GM3 gangliosidosis: a novel human sphingolipodystrophy
Maclaren, N.K.; Max, S.R.; Cornblath, M.; Brady, R.O.; Ozand, P.T.; Campbell, J.; Rennels, M.; Mergner, W.J.; Garcia, J.H.
Pediatrics 57(1): 106-110
1976
ISSN/ISBN: 0031-4005 PMID: 813179 Document Number: 101595
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.