Biochemical investigation of unusual cases of fabry disease

Beyer E.M., Karpova E.A., Udalova O.V., Tsvetkova I.V.
PubMed Id: 9916266
Year: 1998  Volume: 44  Issue: 5  Pages: 494-500
Fourteen members of family P. and four members of family N. were clinico-biochemically examined. Among twelve adult children (19-32 years old) of family P. five sons manifested angiokeratotic skin lesions and other clinical signs of Fabry disease. Three of the probands had additional symptoms not generally found in Fabry disease. Biochemical studies including an enzyme assay, analysis of storage products and alpha-galactosidase multiple forms, allowed us to confirm the diagnosis of Fabry disease in four affected brothers and to establish the heterozygous status of their mother. The data of biochemical investigation of patient N. with atypical variant of Fabry disease are also presented. The patient N. with strong skin lesions had a high residual alpha-galactosidase activity and unusual composition of alpha-galactosidase multiple forms.
Download PDF:  
Keywords: alpha-galactosidase, Fabry disease, glycolipids, lysosomal glycosidases, isoelectric focusing

Beyer, E. M., Karpova, E. A., Udalova, O. V., Tsvetkova, I. V. (1998). Biochemical investigation of unusual cases of fabry disease. Voprosy Meditsinskoi Khimii, 44(5), 494-500.
 2002 (vol 48)
 2001 (vol 47)
 2000 (vol 46)
 1999 (vol 45)
 1998 (vol 44)
 1997 (vol 43)
 1996 (vol 42)
 1995 (vol 41)
 1994 (vol 40)
 1993 (vol 39)
 1992 (vol 38)
 1991 (vol 37)
 1990 (vol 36)
 1989 (vol 35)
 1988 (vol 34)
 1987 (vol 33)
 1986 (vol 32)
 1985 (vol 31)