KRABBES LEUKODYSTROPHY
\kɹˈabz lˈuːkədˌɪstɹəfi], \kɹˈabz lˈuːkədˌɪstɹəfi], \k_ɹ_ˈa_b_z l_ˈuː_k_ə_d_ˌɪ_s_t_ɹ_ə_f_i]\
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
Word of the day
Snake's-head
- Guinea-hen flower; -- so called in England because its spotted petals resemble the scales of a snake's head.
Nearby Words
- kra-kra
- kraal
- krabbe disease
- krabbe leukodystrophy
- krabbes disease
- Krabbes Leukodystrophy
- krabla
- krafft-ebing
- kraft
- kraft paper
- krait