PRESENTED BY :- MANGAL A. KALAWADIA ROLL NO. : 17 INTRODUCTION
This genetic disorder causes a lipid composed of
a ceramide and glucose to accumulate in the tissues, enlarging both the liver and the spleen. TYPES :- Type 1 : Adult chronic non neuronopathic form; enlarged spleen & bone lesions. Type 2 : Acute infantile neuronopathic form; enlarged spleen, severe neurologic abnormalities & death. Type 3 : which may occur anytime in childhood and combines the features of the adult chronic form with slowly progressive but usually milder neurologic dysfunction. DIET
Increased caloric requirements as patients
have higher than normal metabolism.
Mineral or vitamin supplements may be
recommended for nutritional deficiencies that affect Gaucher patients, such as anemia or vitamin B12 deficiency. LIFESTYLE
Due to physical symptoms & complications
patient may have difficult time coping emotionally.
Challenges include reduced self esteem,
mood changes, extreme fatigue and an inability to work or enjoy leisure activities. MEDICATION
Two specific medication :-
Enzyme Replacement Therapy (imiglucerase): Administered by I.V infusion sometimes by a central venous access. Treatment is well tolerated. Substrate Reduction Therapy (miglustat) : Administered orally, second line treatment in type 1 disease if enzyme replacement therapy is not possible. CONCLUSION
Researchers are currently pursuing gene therapy
as an area that may lead to a cure for Gaucher disease. It is believed that gene therapy will involve introducing normal glucocerebrosidase genes into cells of an affected individual. Ideally, these cells would then produce sufficient amounts of glucocerebrosidase. While research of gene therapy for Gaucher disease is ongoing, much work and time is needed before it may become available to the Gaucher community. THANK YOU