[Fabry disease: data from four families].
In 1988 three families were described in this journal with Fabry's disease, an X-linked recessive lysosomal storage disorder caused by the deficiency of alpha-galactosidase A. A fourth family contained four affected men of whom one was unavailable for evaluation. The other three had the same mutation in de alpha-galactosidase gene, notably Gln386Stop, leading to the change of a glutamine codon into a stop codon. Genetic investigation in one of the other families revealed the Met72Arg mutation. The classical symptoms of the disease (angiokeratomata, acroparaesthesias, hypohidrosis and lucid areas in the cornea) are frequently only recognized after a doctor's delay that may be as long as decades. The recognition of this disease is even more important now, as therapeutic possibilities are in sight.
Slee
P H
PH
St. Antonius Ziekenhuis, afd. Inwendige Ziekten, Postbus 2500, 3430 EM Nieuwegein. pslee@knmg.nl
van Boven
L J
LJ
Slee
D S
DS
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012737:Sex Factors; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics*
D000519:alpha-Galactosidase