24. Characterization of Plasma and Urine Metabolites in Barth Syndrome Patients Employing LC-MS/MS and GC-MS Strategies

Tue 4:36 PM - PosterSplash Track 3

Yana Sandlers Kennedy Krieger Institute

View Long Abstract

Barth syndrome (BTHS) is associated with dilated cardiomyopathy, neutropenia, skeletal muscle weakness and growth delay. Biochemical abnormalities of BTHS include 3-methylglutaconic aciduria, hypocholesterolemia and alteration in mitochondrial phospholipids levels. There is no specific treatment for BTHS while therapy of this disorder usually focuses on disease symptoms. The goal of our study is to deepen insight into the Barth syndrome biochemical mechanism and to facilitate diagnosis and treatment of this disorder. Our studies demonstrate the value of complementary plasma and urine metabolic profiles for revealing the biochemical differences between Barth syndrome and healthy individuals.

Email: sandlers@kennedykrieger.org

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