Very long-chain acyl CoA dehydrogenase deficiency

Roe DS, Vianey-Saban C, SharmaS, ZabotMT, Roe CR (2001) Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency aspects of substrate specificity and correlation with clinical phenotype. Clin Chim Acta 312 55-67... 

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency... 

Figure 55-14 Plasma profiles of plasma acylcarnitine butyl-ester derivatives. A, Normal control. B, Propionic acidemia. C, Short-chain acyl-CoA dehydrogenase deficiency. D, Isovaleric acidemia. E, Medium-chain acyl-CoA dehydrogenase deficiency. F, Very long-chain acyl-CoA dehydrogenase deficiency. G, Long-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency.The symbol marks internal standards [ Hjj-acetylcarnitine (m/z 263) [ HaJ-propionylcarnitine (m/z 277) fH ]-butyrylcarnitlne (m/z 295) pHal-octanoylcarnitine (m/z 347) [ Haj-dodecanoylcarnltine (m/z 403) [ Haj-palmitoy I carnitine (m/z 459).

Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 1999 64 479-94. 

The long chain defects, very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) and long-chain 3-hydroxacyl-CoA dehydrogenase deficiency (LCHAD), generally give a low P/M ratio. The mean P/M ratio for LCHAD is 0.60 0.07 (n = 18) and... 

Very long chain acyl-CoA dehydrogenase deficiency 13... 

ASSAYS WITH [9,10- OLEATE VERY LONG-CHAIN ACYL CoA DEHYDROGENASE DEFICIENCY... 

Ficicioglu C, et al. Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. J Pediatr. 2010 156(3) 492-4. 

Arnold GL, et til. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2009 96(3) 85-90. 

Spiekerkoetter U, et al. Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency the value of second-tier enzyme testing. J Pediatr. 2010 157(4) 668-73. 

Ruiz-Sanz JI, Aldamiz-Echevarria L, Arrizabalaga J, Aquino L, Jimeno P, Perez-Nanclares G, et al. Polyunsaturated fatty acid deficiency during dietary treatment of very long-chain acyl-CoA dehydrogenase deficiency. Rescue with soybean oil. J Inherit Metab Dis. 2001, 24(4) 493-503. 

Pervaiz MA, et al. MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency. Indian J Hum Genet. 2011 17(l) 29-32. 

Tucci S, et al. Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice. Biochim Biophys Acta. 2014 1842(5) 677-85. 

Intemationeil GMD. Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCADD). 2008. 4 Sept 2008 [dted 12 Sept 2014] Available from http //www. gmdi.oig/index.php option=com content view=artic le id=43 Itemid=21. 

---