title: Clinical laboratory studies in Barth Syndrome.
abstract: Barth Syndrome is a rare X-linked disorder characterized principally by dilated cardiomyopathy, skeletal myopathy and neutropenia and caused by defects in tafazzin, an enzyme responsible for modifying the acyl chain moieties of cardiolipin. While several comprehensive clinical studies of Barth Syndrome have been published detailing cardiac and hematologic features, descriptions of its biochemical characteristics are limited. To gain a better understanding of the clinical biochemistry of this rare disease, we measured hematologic and biochemical values in a cohort of Barth Syndrome patients. We characterized multiple biochemical parameters, including plasma amino acids, plasma 3-methylglutaconic acid, cholesterol, cholesterol synthetic intermediates, and red blood cell membrane fatty acid profiles in 28 individuals with Barth Syndrome from ages 10 months to 30 years. We describe a unique biochemical profile for these patients, including decreased plasma arginine levels. We further studied the plasma amino acid profiles, cholesterol, cholesterol synthetic intermediates, and plasma 3-methylglutaconic acid levels in 8 female carriers and showed that they do not share any of the distinct, Barth Syndrome-specific biochemical laboratory abnormalities. Our studies augment and expand the biochemical profiles of individuals with Barth Syndrome, describe a unique biochemical profile for these patients, and provide insight into the possible underlying biochemical pathology in this disorder.
authors.affiliation: Division of Metabolism, Kennedy Krieger Institute, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA. Electronic address: hvernon1@jhmi.edu.
authors.forename: Hilary J
authors.initials: HJ
authors.lastname: Vernon
authors.affiliation: Division of Metabolism, Kennedy Krieger Institute, USA.
authors.forename: Yana
authors.initials: Y
authors.lastname: Sandlers
authors.affiliation: Division of Metabolism, Kennedy Krieger Institute, USA.
authors.forename: Rebecca
authors.initials: R
authors.lastname: McClellan
authors.affiliation: Division of Metabolism, Kennedy Krieger Institute, USA.
authors.forename: Richard I
authors.initials: RI
authors.lastname: Kelley
mesh_terms: D000293:Adolescent; D000328:Adult; D001120:Arginine / Q000097:blood*; D056889:Barth Syndrome / Q000097:blood* / Q000473:pathology / Q000503:physiopathology*; D015415:Biomarkers / Q000097:blood*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D055815:Young Adult
chemical_list: D015415:Biomarkers; D001120:Arginine
keywords: Barth Syndrome; Cardiolipin