Check out our entire database and interactive tools to learn more about conditions, procedures, and gain insight into your health risks. Normally, this gene is responsible for an enzyme called glucocerebrosidase that the body needs to break down a particular kind of fat called glucocerebroside. However, the diagnosis of gd is often underestimated due. Intrafamilial clinical variability of type 1 gaucher disease in a frenchcanadian family.
Gaucher disease is an inherited lysosomal storage disorder caused by a defect in the gene encoding the enzyme. Hematologo, hematologo pediatra, inmunologo, pediatra. Enzyme replacement therapy ert has completely revolutionized the prognosis of patients with eg. Guidelines for diagnosis and treatment of gaucher disease. At present, new lsd are regularly described because. Autosomal recessive inheritance of a defective gene results in a deficiency of the lysosomal hydrolase cerebrosidase, which causes an.
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