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Dictionary » Glucocerebrosidase deficiency

Glucocerebrosidase deficiency

Introduction: Glucocerebrosidase deficiency

Description of Glucocerebrosidase deficiency

Glucocerebrosidase deficiency (medical condition): A rare inherited biochemical disorder characterized by the deficiency of...more »

See also:

Gaucher disease type 1:
  »Introduction: Gaucher disease type 1
  »Symptoms of Gaucher disease type 1

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)
Source: Diseases Database

Glucocerebrosidase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Glucocerebrosidase deficiency:

Glucocerebrosidase deficiency: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Glucocerebrosidase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Glucocerebrosidase deficiency, or a subtype of Glucocerebrosidase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)


Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Glucocerebrosidase deficiency as a "rare disease".

Source - Orphanet

Glucocerebrosidase deficiency as a Disease

Glucocerebrosidase deficiency: Another name for Gaucher disease type 1 (or close medical condition association).
  »Introduction: Gaucher disease type 1
  »Symptoms of Gaucher disease type 1

Glucocerebrosidase deficiency: Related Diseases

Glucocerebrosidase deficiency: Glucocerebrosidase deficiency is listed as a type of (or associated with) the following medical conditions in our database:

Symptoms of Glucocerebrosidase deficiency (Gaucher disease type 1)

Some of the symptoms of Glucocerebrosidase deficiency incude:

Glucocerebrosidase deficiency: Related Disease Topics

These medical disease topics may be related to Glucocerebrosidase deficiency:

Terms associated with Glucocerebrosidase deficiency:

Terms Similar to Glucocerebrosidase deficiency:

Source: Diseases Database

Source - NIH

External links related to: Glucocerebrosidase deficiency

Source: Diseases Database

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