Glucosylceramide Beta-Glucosidase Deficiency Disease Medical Condition Defined & Explained

About The Medical Condition Glucosylceramide Beta-Glucosidase Deficiency Disease

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

Glucosylceramide Beta-Glucosidase Deficiency Disease

Glucosylceramide Beta-Glucosidase Deficiency Disease Medical Condition
What's The Definition Of The Medical Condition Glucosylceramide Beta-Glucosidase 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)

Glucosylceramide Beta-Glucosidase Deficiency Disease Medical Condition

What's The Definition Of The Medical Condition Glucosylceramide Beta-Glucosidase 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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