Gaucher disease
Gaucher disease is a genetic disorder in which glucocerebroside accumulates in cells and certain organs. The disease is caused by a recessive mutation in the GBA gene located on chromosome 1 and affects both males and females. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase.
Painless hepatomegaly, splenomegaly, Neurological symptoms
Type I: impaired olfaction and cognition
Type II: serious convulsions, hypertonia, intellectual disability, and apnea
Type III: muscle twitches known as myoclonus, convulsions, dementia, and ocular muscle apraxia
Diagnosis can be done by genetic testing and enzyme testing also be implied by biochemical abnormalities such as high alkaline phosphatase, angiotensin-converting enzyme, and immunoglobulin levels.
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