Short-chain acyl-CoA dehydrogenase deficiency

Young SP, Matern D, Gregersen N, et al (2003) A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. Clin Chim Acta 337 103-113... 

EMA, EthyLmalonic acid 5CAD, short-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).

Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE. The emerging clinical and biochemical picture of short-chain acyl-CoA dehydrogenase deficiency. J Pediatr 1995 126 910-5. 

KJeldsen M, Winter V, et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 2001 49 18-23. 

Turnbull DM, Bartlett K, Stevens DL, Alberti KG, Gibson GJ, Johnson MA, et al. Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. N Engl J Med 1984 311 1232-6. 

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. 

Short-chain Acyl-CoA dehydrogenase deficiency studies in a large family adding to the complexity of the disorder. 

LESSONS LEARNED FROM THE MOUSE MODEL OF SHORT-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY... 

Armstrorig, D.L., Masiowski, M.L. Wood, PA (1993) A r. J. Med Genet, 47, 884-892. Pathologic characterization of short-chain acyl-CoA dehydrogenase deficiency in BALB/cByJ mice. 

Yamanaka, H., Ueshima, Y, Nakajima, T., Yoshida, N., Inoue, F, Kodo, N., Kinugasa, A. Sawada, T. (1992)7. InheritedMetab. Dis., 15, 353-355. Gluconeogenesis and ketogenesis in perfused livers from short-chain acyl-CoA dehydrogenase-deficient mice. 

Hinsdale, M.E., Hamm, D.A. Wood, PA. (19%) Biochem. Mol. Med, 57, 106-115. Effects of short-chain acyl-CoA dehydrogenase deficiency on developmental expression of metabolic enzyme genes in the mouse. 

Qureshi, I.A., Ratnakumari, L., Michalak, A., Giguere, R., Cyr, D. Butterworth, R.F. ( 993)Biochem. Med Metab. Biol., 50, 145-158. A profile ofcerebral and hepatic carnitine, ammonia, and energy metabolism in a model of organic aciduriaiBALB/cByJ mouse with short-chain acyl-CoA dehydrogenase deficiency. 

Gallant NM, et al. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab. 2012 106(1) 55-61. 

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