GLUCOCEREBROSIDASE DEFICIENCY DISEASE
\ɡlˈuːkə͡ʊsɹˌɛbɹəsˌɪde͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \ɡlˈuːkəʊsɹˌɛbɹəsˌɪdeɪs dɪfˈɪʃənsi dɪzˈiːz], \ɡ_l_ˈuː_k_əʊ_s_ɹ_ˌɛ_b_ɹ_ə_s_ˌɪ_d_eɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
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An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase (see GLUCOSYLCERAMIDASE) featuring the pathological storage of glycosylceramide in mononuclear PHAGOCYTES (Gaucher Cells). The most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities. The neuronopathic forms are divided into infantile and juvenile forms. The infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly. The juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ATAXIA, myoclonic SEIZURES, and spasticity. The neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons. (From Baillieres Clin Haematol 1997 Dec;10 (4):711-23; Menkes, Textbook of Child Neurology, 5th ed, p97)
By DataStellar Co., Ltd
Nearby Words
- glucoamylase
- glucoamylase g1
- glucoamylase g2
- glucobiogen
- glucocerebrosidase
- Glucocerebrosidase Deficiency Disease
- glucocerebrosidase deficiency diseases
- glucocerebroside beta glucosidase
- glucochloral
- glucochloralose
- glucocorticoid