Journal article

Urinary lipid profiling for the identification of Fabry hemizygotes and heterozygotes

M Fuller, PC Sharp, T Rozaklis, PD Whitfield, D Blacklock, JJ Hopwood, PJ Meikle

Clinical Chemistry | AMER ASSOC CLINICAL CHEMISTRY | Published : 2005


BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the lysosomal hydrolase, alpha-galactosidase, for which enzyme replacement therapy is now available. In this study, we aimed to identify Fabry heterozygotes not only for genetic counseling of families but because it is becoming increasingly obvious that many heterozygous (carrier) females are symptomatic and should be considered for treatment. METHODS: We measured 29 individual lipid species, including ceramide, glucosylceramide, lactosylceramide, and ceramide trihexoside, in urine samples from Fabry hemizygotes and heterozygotes and from control individuals by electrospray ionization tandem ma..

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