Definitions for gangliosidosis, gm1
This page provides all possible meanings and translations of the word gangliosidosis, gm1
U.S. National Library of Medicine
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 juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
Find a translation for the gangliosidosis, gm1 definition in other languages:
Select another language:
Discuss these gangliosidosis, gm1 definitions with the community:
Word of the Day
Would you like us to send you a FREE new word definition delivered to your inbox daily?
Use the citation below to add this definition to your bibliography:
"gangliosidosis, gm1." Definitions.net. STANDS4 LLC, 2016. Web. 12 Feb. 2016. <http://www.definitions.net/definition/gangliosidosis, gm1>.