Gaucher's Disease Other Information |
Gaucher//'s Disease |
Gaucher's disease (pronounced goʃeɪ) is the most common of the lipid storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase, leading to an accumulation of its substrate, the fatty substance glucocerebroside. Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may cause pain, severe neurologic complications, swelling of lym ...
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Treating Rare Lysosomal Storage Diseases
... When waste is created in the world, if it is not removed or destroyed, terrible things can happen: diseases fester, rodent populations soar, people sicken and die. Within the world of the body, when w...
Source: Cleveland Clinic
Gaucher''s Disease ... What is Gaucher''s Disease? Gaucher disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone mar...
Source: Cleveland Clinic
Gaucher''s Disease Information Page ... Gaucher disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and, in rare cases, the...
Source: National Institute of Neurological Disorders and Stroke
Questions and Answers About Avascular Necrosis ... Avascular necrosis is a disease resulting from the temporary or permanent loss of the blood supply to the bones. Without blood, the bone tissue dies and causes the bone to collapse. If the process inv...
Source: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Gaucher disease ... Gaucher disease is an inherited disorder in which the body cannot break down a lipid called glucocerebroside. Genetic changes are related to the following types of Gaucher disease. Gaucher disease, ty...
Source: Genetics Home Reference
Pseudo-Gaucher disease ... Pseudo-Gaucher disease is an inherited disorder in which the body cannot break down a lipid called glucocerebroside. Although it is caused by defects in the same gene, this condition has different sig...
Source: Genetics Home Reference
Genes and Disease: Gaucher disease ... Gaucher (pronounced "go-SHAY") disease is an inherited illness caused by a gene mutation. Normally, this gene is responsible for an enzyme called glucocerebrosidase that the body needs to br...
Source: National Center for Biotechnology Information
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