| 单词 | Deficiency Disease,Galactosylceramidase |
| 释义 | Deficiency Disease,Galactosylceramidase《英文msh词典》Deficiency Disease,Galactosylceramidase [入口词] Deficiency Disease,Galactosylceramidase [主题词] Leukodystrophy,Globoid Cell [英文释义] 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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