1. gangliosidosis, gm1 An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenileform features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adultform features progressive DEMENTIA; ATAXIA; and MUSCLESPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
Definitions of gangliosidosis, gm1
