Barth syndrome

Acehan D, Vaz F, Houtkooper RH et al (2011) Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome. J Biol Chem 286 899-908... 

Barth syndrome [12] An X-linked dilated cardiomyopathy with cyclic neutropenia, and skeletal myopathy and abnormal mitochondria. This condition has been ascribed to mutations of the tafazzin gene. This gene might also account for nonsyndromic forms of X-linked cardiomyopathy and isolated noncompaction of the left ventricle myocardium. 

Disruption of Higher Complex Formation in Barth Syndrome and Apoptosis... 

Acehan, D., Xu, Y., Stokes, D.L. and Schlame, M., Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography, Lab Invest 87 (2007) 40-A8. 

Brandner, K., Mick, D.U., Frazier, A.E., Taylor, R.D., Meisinger, C. and Rehling, P., Tazl, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes implications for Barth Syndrome, Mol Biol Cell 16 (2005) 5202-5214. 

Claypool, S.M., McCaffery, J.M. and Koehler, C.M., Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins, J Cell Biol 174 (2006) 379-390. 

Hauff, K.D. and Hatch, G.M., Cardiolipin metabolism and Barth Syndrome, Prog Lipid Res 45(2006)91-101. 

Li, G., Chen, S., Thompson, M.N. and Greenberg, M.L., New insights into the regulation of cardiolipin biosynthesis in yeast implications for Barth syndrome, Biochim Biophys Acta 1771 (2007) 432-441. 

McKenzie, M., Lazarou, M., Thorburn, D.R. and Ryan, M.T., Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients, J Mol Biol 361 (2006) 462-469. 

Schlame, M. and Ren, M., Barth syndrome, a human disorder of cardiolipin metabolism, FEBS Lett 580 (2006) 5450-5455. 

Valianpour, F., Wanders, R. J., Barth, P. G., Overmars, H., van Gennip, A. H. (2002). Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry Application for the identification of Barth syndrome patients. Clinical Chemistry, 48, 1390-1397. 

Hypertrophic cardiomyopathy, a thick, rigid cardiac muscle, is also seen in inborn errors, with some overlap with disorders associated with a dilated phenotype. This includes carnitine deficiency, primary respiratory chain defects, Barth syndrome, several glycogenoses (e.g., GSD III, rv, and IX), and lysosomal storage disorders. In lysosomal storage disease the valves are typically more affected than the muscle itself. In the neonate there should be high suspicion for GSD type... 

Wang, G., McCain, M.L., Yang, L.H., He, A.B., Pasqualini, F.S., et al. Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. Nature Medicine 20, 616-623 (2014)... 

Barth syndrome Fanconi-Bickel syndrome Molybdenum cofactor def. 

Cholesterol 4 3-Methylglutaconic acidurai, other types Mevalonic aciduria Abetalipoproteinemia Hypobetalipoproteinemia 3 -Hydroxy-A -C27-steroid dehydrogenase (3/ -HSDH) def 3reductase def (5 -reductase def) Smith-Lemli-Opilz syndrome Barth syndrome Glucosyltransferase I def CDG-Ic... 

The inborn errors of L-leucine catabolism present biochemically with branched-chain amino and/or organic aciduria [1]. These disorders include maple syrup disease (MSD branched-chain a-ketoacid dehydrogenase (BCKD) deficiency), isovaleric acidemia (isovaleryl-coenzyme A (CoA) dehydrogenase deficiency), isolated 3-methylcrotonyl-CoA carboxylase deficiency, the 3-methylglutaconic acidurias (3-methylglutaconyl-CoA hydratase deficiency, Barth syndrome, and other disorders in which the primary defect has not been demonstrated), and 3-hydroxy-3-methylglutaric aciduria (3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency). 

Table 6.5. Barth syndrome (Xdinked 3-methylglutaconk aciduria, normal 3-methylglutaconyl-CoA hydratase activity) ...

Barth syndrome, 3-methylgbtaco-nic aciduria, type II (hydratase, normal) 18-140 (combined with 3-methylglu- taric acid) ... 

Cardiolipin (CL) is a complex lipid which, in essence, consists of PG molecules attached to a PA molecule. In mammals it is present only in mitochondria (mainly in the inner membranes), and C18 fatty acids, parhcularly linoleate (18 2), are predominant in CLs [59]. CL is an activator of many enzymes of the respiratory chain and its deficiency results in serious defects. In the Barth syndrome CL is diminished, probably due to impaired remodeling of its fatty acids [60]. 

Valianpour, R, Wanders, R.J., Overmars, H., Vaz, F.M., Barth, RG. and van Geimip, A.H., Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiohpin levels implications for treatment. J. Lipid Res., 44, 560-566 (2003). 

---