Gaucher disease
Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly.There are three types:Type 1, the most common form, causes liver and spleen enlargement, bone pain and fractures (broken bones), and, sometimes, lung and kidney problems. It does not affect the brain. It can occur at any age.Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts in childhood or adolescence.Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.NIH: National Institute of Neurological Disorders and Stroke
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D is the correct answer
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Top Gaucher disease Doctors on Curofy
Top doctors who continously share their opinions on Gaucher diseaseSelf Emploid(private Clinic)
Morbi
Shri M P Shah Medical College Jamnagar
M B B S
The Health City Hospital
Intensivist
Maharashtra University of Health Sciences Nashik
bhms
Super Specialist in Reproductive Endocrinology
Dhanvantri Children Hospital
Consultant
Mrmc
MBBS,,,DCH
Jagadguru Jayadeva Murugarajendra Medical College
Retired Professor and Head Pediatrics
Jagadguru Jayadeva Murugarajendra Medical College
md,frcpch(uk),ficpcc(London),masp(usa),phd, fams ,fimsa.
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F.34yrs. Spot diagnosis please. No h/o Injury.
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