| Issue |
Med Sci (Paris)
Volume 21, Décembre 2005
Métabolisme glucidolipidique et risque cardiovasculaire: Nouvelle approches
|
|
|---|---|---|
| Page(s) | 45 - 47 | |
| Section | M/S revues | |
| DOI | https://doi.org/10.1051/medsci/20052111s45 | |
| Published online | 15 November 2005 | |
Dosage du globotriaosylcéramide dans l’urine
Globotriaosylceramide measurement in urine
1
Laboratoire de Biochimie Pédiatrique, Hôpital Debrousse, 29, rue Soeur Bouvier, 69322 Lyon Cedex 05, France
2
Fondation Gillet Mérieux, Centre Hospitalier Lyon- Sud, chemin Grand Revoyet, 69310 Pierre-Bénite, France
La maladie de Fabry est une maladie de surchargedue à un déficit de l’α-galactosidase A.Un traitement par enzyme de substitution estdésormais possible. Le dosage du globotriaosylcéramidedans l’urine peut être effectué parspectrométrie de masse en tandem (MS/MS).Cette technique, particulièrement sensible etspécifique, est décrite, ainsi que les résultatschez des patients atteints, des femmes hétérozygoteset des malades traités par enzyme desubstitution.
Abstract
Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the lysosomal hydrolase,α-galactosidase A, for which enzyme replacement therapyis now available. Globotriaosylceramide measurementin urine samples may be used for the diagnosis and management of patients affected with Fabry disease and heterozygote women. The method by electrospray ionization tandem mass spectrometry, very accurate and specific, is described.
© 2005 médecine/sciences - Inserm / SRMS
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