Article
Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes.
Molecular genetics and metabolism - 1 Jan 2000
Nowak Albina, Mechtler Thomas P, Desnick Robert J, Kasper David C
Abstract excerpt
BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to mutations in the α-galactosidase A gene (GLA) that result in absent or markedly reduce α-galactosidase A (α-GalA) enzymatic activity. As a result, the major glycosphingolipid substrates, globotriaosylceramide (Gb3) and globotriaosylsphingosine (LysoGb3) accumulate in plasma, urine and tissue lysosomes. In females, the diagnosis...
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