About The Medical Condition Disease, Galactosylceramide-beta-Galactosidase Deficiency
Find the definition of the medical term Disease, Galactosylceramide-beta-Galactosidase Deficiency. Disease, Galactosylceramide-beta-Galactosidase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Disease, Galactosylceramide-beta-Galactosidase Deficiency
| Disease, Galactosylceramide-beta-Galactosidase Deficiency Medical Condition |
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What's The Definition Of The Medical Condition Disease, Galactosylceramide-beta-Galactosidase Deficiency?
An autosomal recessive inherited sphingolipidosis caused by a deficiency of GALACTOSYLCERAMIDASE leading to an accumulation of PSYCHOSINE in LYSOSOMES of the BRAIN; PERIPHERAL NERVES; LIVER; KIDNEY; and LEUKOCYTES. In the nervous sytem there is prominent central and peripheral demyelination. The infantile form presents at age 4-6 months with psychomotor retardation, MUSCLE SPASTICITY, and tonic spasms induced by minor stimuli. Death occurs within two years. Later onset forms of this disease are characterized by a less fulminant course. (From Menkes, Textbook of Child Neurology, 5th ed, pp195-7)
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