About The Medical Condition Disease, Galactosylceramidase Deficiency
Find the definition of the medical term Disease, Galactosylceramidase Deficiency. Disease, Galactosylceramidase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Disease, Galactosylceramidase Deficiency
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What's The Definition Of The Medical Condition Disease, Galactosylceramidase 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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