Medium-chain acyl CoA dehydrogenase deficiency

Dezateux C. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency evaluating the effects on outcome. Eur J Pediatr. 2003 Dec 162 Suppl l S25-8. Epub 2003 Nov 20. Review. PubMed citation... 

Wang SS, Femhoff PM, Hannon WH, Khoury MJ. Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med. 1999 Nov-Dec l(7) 332-9. PubMed citation... 

A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency. 

Diagnosis of medium chain acyl-CoA dehydrogenase deficiency by stable isotope dilution analysis of urinary acylglycines retrospective and prospective studies, and comparison of its accuracy to acylcamitine identification by FAB/mass spectrometry. 

Improved PCK/NcoI method for the molecular diagnosis of medium chain acyl-CoA dehydrogenase deficiency using dried blood samples two-stage amplification using two different sets of primers improves accuracy and sensitivity. 

Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12. 

The molecular basis of medium chain acyl-CoA dehydrogenase deficiency survey and evolution of 985A—G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene. 

Rinaldo P, O Shea JJ, Coates PM, Hale DE, Stanley CA, Tanaka (1988) Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by Stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine. N Engl J Med 319 1308-1313... 

Cf-FAB was widely used to solve analytical problems concerning highly polar and/or ionic compounds, e.g., carotenoids [51], acylcamitine in the urine of a medium-chain acyl-CoA dehydrogenase deficient patient [52]. 

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).

Albers S, Levy HL> Irons M, Strauss AW, Marsden D. Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2001 24 417-8. 

Clayton PT, Doig M, Ghafari S, Meaney C, Taylor C, Leonard JV> et al. Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. Arch Dis Child 1998 79 109-15. 

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