Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome.

Journal of Inherited Metabolic Disease
W Todd CadeLinda R Peterson

Abstract

Barth syndrome (BTHS) is a rare X-linked disorder that is characterized by mitochondrial abnormalities, infantile or childhood onset of cardioskeletal myopathy, and high mortality rates. It is currently unknown if BTHS related mitochondrial dysfunction results in substrate metabolism abnormalities and thereby contributes to cardioskeletal myopathy in patients with BTHS. Adolescents and young adults with BTHS (n = 5, 20 ± 4 yrs) and age and activity matched healthy controls (n = 5, 18 ± 4 yrs) underwent an hyperinsulinemic-euglycemic clamp procedure with stable isotopically labeled tracers for measurement of lipolysis, fatty acid oxidation, glucose disposal, and whole-body proteolysis rates; dual energy x-ray absorptiometry for measurement of body composition and 2-D and strain echocardiography for measurement of left ventricular function. Participants with BTHS had lower fat-free mass (FFM) (BTHS: 31.4 ± 6.9 vs. 46.7 ± 5.3 kg, p < 0.005), lower systolic function (strain, BTHS: -15.2 ± 2.4 vs. -19.0 ± 2.4 %, p < 0.05), greater insulin-stimulated glucose disposal rate per kg FFM (BTHS: 96.5 ± 16.3 vs. 67.4 ± 17.6 μmol/kgFFM/min, p < 0.05), lower basal (BTHS: 4.6 ± 2.7 vs. 11.9 ± 4.4 μmol/kgFM/min, p < 0.05) and hyperinsulinemic (...Continue Reading

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Citations

May 10, 2013·Orphanet Journal of Rare Diseases·Charlotte RigaudJean Donadieu
Aug 3, 2018·Human Gene Therapy·Silveli Suzuki-HatanoChristina A Pacak
Jun 8, 2018·Balkan Journal of Medical Genetics : BJMG·Finsterer J, Stollberger C
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Nov 14, 2020·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Mauro SerricchioPeter Bütikofer
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Oct 30, 2021·Journal of Inherited Metabolic Disease·Reid ThompsonHilary J Vernon

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