About The Medical Condition Gangliosidosis GM1, Infantile
Find the definition of the medical term Gangliosidosis GM1, Infantile. Gangliosidosis GM1, Infantile defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Gangliosidosis GM1, Infantile
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What's The Definition Of The Medical Condition Gangliosidosis GM1, Infantile?
A form of gangliosidosis characterized by accumulation of G(M1) GANGLIOSIDE and oligosaccharides in lysosomes caused by an absence or severe deficiency of the enzyme BETA-GALACTOSIDASE (type A1). The three phenotypes of this disorder are infantile (generalized), juvenile, and adult. The infantile form is characterized by skeletal abnormalities, hypotonia, poor psychomotor development, hirsutism, hepatosplenomegaly, and facial abnormalities. The juvenile form features hyperacusis, seizures, and psychomotor retardation. The adult form features progressive intellectual deterioration, involuntary movements, ataxia, and spasticity. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
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