DEFICIENCY DISEASE, GALACTOSYLCERAMIDE BETA GALACTOSIDASE
\dɪfˈɪʃənsi dɪzˈiːz], \dɪfˈɪʃənsi dɪzˈiːz], \d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
Definitions of DEFICIENCY DISEASE, GALACTOSYLCERAMIDE BETA GALACTOSIDASE
Sort: Oldest first
-
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)
By DataStellar Co., Ltd
Nearby Words
- deficiencies, respiratory chain
- deficiency
- deficiency disease
- deficiency disease hexosaminidase a
- deficiency disease, carbamoyl phosphate synthase
- Deficiency Disease, Galactosylceramide beta Galactosidase
- deficiency disease, lysosomal alpha 1,4 glucosidase
- deficiency disease, phenylalanine hydroxylase, severe
- deficiency diseases
- deficiency symptom
- deficiency, argininosuccinic acid synthetase, complete