Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
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Beijing Da Xue Xue Bao · Apr 2013
Case Reports[A boy with Fabry disease with the onset at the age of four].
Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of α-galactosidase A (GLA). Intracellular accumulation of globotriaosylceramide, the glycolipid substrate of this enzyme, leads to severe painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfunction. Patients of severe cases die young. ⋯ Early diagnosis is the key point to reduce the mortality and handicap. GLA enzyme activity is important to the diagnosis of Fabry disease. The mutation analysis of GLA gene is helpful for genetic counseling.