Acyl-CoA dehydrogenase deficiency

Glutaric aciduria type II, which is a defect of P-oxida-tion, may affect muscle exclusively or in conjunction with other tissues. Glutaric aciduria type II, also termed multiple acyl-CoA dehydrogenase deficiency (Fig. 42-2), usually causes respiratory distress, hypoglycemia, hyperammonemia, systemic carnitine deficiency, nonketotic metabolic acidosis in the neonatal period and death within the first week. A few patients with onset in childhood or adult life showed lipid-storage myopathy, with weakness or premature fatigue [4]. Short-chain acyl-CoA deficiency (Fig. 42-2) was described in one woman with proximal limb weakness and exercise intolerance. Muscle biopsy showed marked accumulation of lipid droplets. Although... 

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. 

The educational role fulfilled by active participation in EQA is demonstrable. Redistribution of the same sample following a gap of several years indicated a detection rate that improved by 20% for mevalonic aciduria, L-2-hydroxyglutaric aciduria, Canavan disease, 4-hydroxybutyric aciduria and long-chain hyroxy-acyl CoA dehydrogenase deficiency [6]. These results probably reflect the fact that many participants encounter rarer conditions for the first time as a member of an EQA scheme. Stored residual samples from such EQA schemes and unlabelled chromatograms can also be used as a valuable training aid or even a competency test for analysts. 

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