About The Medical Condition Glucocerebrosidase Deficiency Disease

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Find the definition of the medical term Glucocerebrosidase Deficiency Disease. Glucocerebrosidase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Glucocerebrosidase Deficiency Disease

Glucocerebrosidase Deficiency Disease Medical Condition Defined & Explained
Glucocerebrosidase Deficiency Disease Medical Condition

What's The Definition Of The Medical Condition Glucocerebrosidase Deficiency Disease?

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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