About The Medical Condition Infantile Gangliosidosis GM1
Find the definition of the medical term Infantile Gangliosidosis GM1. Infantile Gangliosidosis GM1 defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Infantile Gangliosidosis GM1
| Infantile Gangliosidosis GM1 Medical Condition |
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What's The Definition Of The Medical Condition Infantile Gangliosidosis GM1?
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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