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a 14 year old boy is complaining of burning sensation in hands which gets worse with exercise and hot weather.some raised reddish purple belmishes are observed on his skin!
his elder brother also had the same problems and he later died of heart failure at the age of 23!
dr advise his parents that he might be at risk of developing stroke or kidney failure in near future and he need to be placed on enzymatic therapy soon to lessen the complications to some degree!
which of the following disease is he suffering from....
1>> krabbe 's disease
2>> metachromatic leukodystrophy
3>> hunters disease
4>>> gaucher's disease
5>>> fabry's disease
6>>>> hurlers disease
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fabry
practical enzyme replacement therapy is available for this disease
Fabry disease is an X-linked inborn error of glycosphingolipid metabolism caused by a deficiency of the lysosomal hydrolase a-galactosidase A (a-Gal A). Typically, in affected males who have little if any residual a-Gal A activity, the first clinical manifestations occur in childhood when episodes of severe pain in the extremities (ie, acroparesthesias), hypohidrosis, corneal and lenticular changes, and characteristic skin lesions (ie, angiokeratomas) are noted. With advancing age, progressive kidney, cardiovascular, and cerebrovascular disease develop and are the major causes of mortality.
Clinical trials with recombinant a-Gal A (Fabrazyme) have revealed the safety and effectiveness of enzyme replacement therapy for Fabry disease.
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correct...
Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The enzyme is known as ceramide trihexosidase, also called alpha-galactosidase-A. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the eyes, kidneys, autonomic nervous system, and cardiovascular system. Since the gene that is altered is carried on a mother™s X chromosome, her sons have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier. Symptoms usually begin during childhood or adolescence and include burning sensations in the hands that gets worse with exercise and hot weather and small, raised reddish-purple blemishes on the skin. Some boys will also have eye manifestations, especially cloudiness of the cornea. Lipid storage may lead to impaired arterial circulation and increased risk of heart attack or stroke. The heart may also become enlarged and the kidneys may become progressively involved. Other symptoms include decreased sweating, fever, and gastrointestinal difficulties, particularly after eating. Some female carriers may also exhibit symptoms. Fabry disease is one of several lipid storage disorders.
Enzyme replacement may be effective in slowing the progression of the disease. The pain in the hands and feet usually responds to anticonvulsants such as phenytoin and carbamazepine. Gastrointestinal hyperactivity may be treated with metoclopramide. Some individuals may require dialysis or kidney transplantation.
Patients with Fabry disease often survive into adulthood but are at increase risk of strokes, heart attack and heart disease, and renal failure.
