Fabry's disease


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Related to Fabry's disease: Pompe disease

Fabry's disease (syndrome)

 [fah´brēz]
a sphingolipidosis transmitted as an X-linked recessive trait, in which the glycolipid trihexosyl ceramide is deposited in various tissues, especially the kidneys; the deficient enzyme is α-galactosidase A. It is marked by purpuric skin lesions (angiokeratomas), central nervous system symptoms, and death due to progressive renal failure. Called also angiokeratoma corporis diffusum.

Fabry's disease

Alpha-galactosidase deficiency, angiokeratoma corporis diffusum Pediatrics An X-linked lysosomal storage disease caused by a defect in trihexosylceramide α-galactosidase Clinical Chronic pain, angiokeratomas, hypohidrosis
References in periodicals archive ?
Most families have private mutations which may explain the variations in clinical presentation of Fabry's disease.14
Fabry's disease. In: Burns T, Breathnach S, Cox N, Griffiths C, editors.
Psychosis in a patient with Fabry's disease and treatment with aripiprazole.
Fabry's disease is a fat-storage disorder, which impairs circulation, leading to kidney failure, heart attacks and strokes.
"And at the Royal Free Hospital, we are looking at younger stroke patients to see if we can establish what the prevalence of Fabry's disease is in that group," Dr.
Sinai Medical Center in New York City infused the missing enzyme into 29 adults with Fabry's disease. The treatment completely cleared the dangerous lipid in the hearts, kidneys, and skin of 20 patients.
Peripheral nerve involvement in Fabry's disease. Arch Neurol 1970; 22:81-88.
It would be interesting, at some point, to investigate the cellular level in order to establish anatomical evidence of the blood vessel tortuosity characteristic of Fabry's disease in the affected subjects.
(1967) Enzymatic defect in Fabry's disease: Ceramidetrihexosidase deficiency.
Enzymatic defect in Fabry's disease. Ceramide trihexosidase deficiency.

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