GALACTOSYLCERAMIDASE DEFICIENCY DISEASE
\ɡˈalɐktˌɒsɪlsɪɹˌamɪdˌe͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \ɡˈalɐktˌɒsɪlsɪɹˌamɪdˌeɪs dɪfˈɪʃənsi dɪzˈiːz], \ɡ_ˈa_l_ɐ_k_t_ˌɒ_s_ɪ_l_s_ɪ_ɹ_ˌa_m_ɪ_d_ˌeɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
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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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Nearby Words
- galactosis
- galactostasia, galactostasis
- galactostasis
- galactosuria
- galactosylceramidase
- Galactosylceramidase Deficiency Disease
- galactosylceramidase deficiency diseases
- galactosylceramide beta galactosidase
- galactosylceramide beta galactosidase deficiency disease
- galactosylceramide beta galactosidase deficiency diseases
- galactosylceramide galactosidase