About The Medical Condition Diseases, Glucocerebrosidase Deficiency
Find the definition of the medical term Diseases, Glucocerebrosidase Deficiency. Diseases, Glucocerebrosidase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Diseases, Glucocerebrosidase Deficiency
| Diseases, Glucocerebrosidase Deficiency Medical Condition |
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What's The Definition Of The Medical Condition Diseases, Glucocerebrosidase Deficiency?
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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