Senescent erythrocytes are considered a major source of the ceramide trihexoside which accumulates in Fabry disease patients. We have evaluated weekly phlebotomy as a method to reduce the catabolic load imposed by the senescence of erythrocytes and thereby ceramide trihexoside in one Fabry patient; no change was observed in either plasma or urinary level of ceramide trihexoside. The implications of this observation are discussed with regard to glycolipid metabolism in man.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/0006-2944(83)90029-7 | DOI Listing |
Pharmaceutics
June 2018
College of Pharmacy and Institute of Drug Research and Development, Chungnam National University, Daejeon 34134, Korea.
Fabry disease is a rare lysosomal storage disorder resulting from the lack of gene activity. Globotriaosylceramide (GB3, ceramide trihexoside) is a novel endogenous biomarker which predicts the incidence of Fabry disease. At the early stage efficacy/biomarker study, a rapid method to determine this biomarker in plasma and in all relevant tissues related to this disease simultaneously is required.
View Article and Find Full Text PDFCardiovasc Pathol
January 2017
Department of Pathology, Mitsubishi Kyoto Hospital, 1 Katsuragoshomachi, Nishikyo-ku, Kyoto, 615-8087, Japan.
Fabry's disease is a lysosomal storage disease characterized by intracellular accumulation of ceramide trihexoside resulting from alpha-galactosidase A deficiency. While the heart is often involved, coronary artery disease and its management in Fabry's disease patients are extremely rare clinical entities. We report a case of a 72-year-old man with left main disease in Fabry's disease with special consideration of the arterial wall pathology.
View Article and Find Full Text PDFMethods Mol Biol
September 2016
Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA, USA.
A unique monophasic extraction system coupled with LC/MS/MS to reduce matrix effects for sphingolipid analysis was developed. A solvent mixture of methanol, acetonitrile, and water was identified to simultaneously extract multiple sphingolipids with broad polarity range. To reduce matrix effects, the targeted sphingolipids were analyzed by liquid chromatography-tandem mass spectrometry (LC/MS/MS).
View Article and Find Full Text PDFMol Genet Metab
February 2015
Baker IDI Heart and Diabetes Institute, Melbourne, Australia.
Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from deficiency of α-galactosidase A (GLA). Traditionally, heterozygotes were considered asymptomatic carriers of FD, but it is now apparent that the asymptomatic female carrier is the exception and most heterozygotes suffer significant multisystemic disease. To determine why the process of cross-correction does not occur effectively in FD heterozygotes, we investigated GLA production and secretion in cultured skin fibroblasts as well as GLA levels in plasma.
View Article and Find Full Text PDFNeurosci Lett
September 2013
Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Japan.
We studied the altered molecular species of lipids in brain and liver tissues, and fibroblasts from patients with Zellweger syndrome (ZS). ZS cerebellum samples contained a higher amount of sphingomyelin with shorter chain fatty acids compared to that in normal controls. The amount of phosphatidylethanolamine (PE) was less than half of that in controls, with the absence of the PE-type of plasmalogen.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!