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Gaucher disorder

Gaucher disorder --> gauchers disease

(Science: disease) a chronic congenital disease of lipid metabolism caused by a deficiency of the beta-glucocerebrosidase enzyme. The defect is most common in Ashkenazi jews. Clinical features are hepatosplenomegaly (enlargement of liver and spleen) and in severe early onset forms of the disease, with neurological dysfunction.

Inheritance: autosomal recessive.


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... Syndrome * Barth Syndrome * Batten Disease * Best's Disease * Bipolar Disorder * Bloom Syndrome * Branchio-Oto-Renal (BOR) Syndrome * Canavan Syndrome ... (Glucose-6-Phosphate Dehydrogenase) Deficiency Anemia * Galactosemia * Gaucher Disease * Gilbert's Syndrome * Glaucoma * Hemochromatosis * Hemoglobin ...

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by gamila
Thu Apr 23, 2009 4:16 am
 
Forum: Evolution
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