TYPE 1 GAUCHER DISEASE
\tˈa͡ɪp wˈɒn ɡˈɔːt͡ʃə dɪzˈiːz], \tˈaɪp wˈɒn ɡˈɔːtʃə dɪzˈiːz], \t_ˈaɪ_p w_ˈɒ_n ɡ_ˈɔː_tʃ_ə d_ɪ_z_ˈiː_z]\
Definitions of TYPE 1 GAUCHER DISEASE
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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)
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