Medium-chain acyl CoA dehydrogenase

FIGURE 24.13 The subunit structure of medium chain acyl-CoA dehydrogenase from pig liver mitochondria. Note the location of the bound FAD (red). (Adapted from Kim, J-T., and Wiz, J., 1988. Structure of the medium-chain acyl-CoA clchyclro-genase from pig liver mitochonciria at 3-A resolution. Proceedings of the National Academy of Sciences, USA 85 6671-668. )... 

Srivastava, D.K., S. Wang, and K.L. Peterson. 1997. Isothermal titration microcal-orimetric studies for the binding of octenoyl-CoA to medium chain acyl-CoA dehydrogenase. Biochemistry 36 6359-6366. 

Medium chain acyl CoA dehydrogenase (MCAD) deficiency, primary etiology hepatic... 

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. 

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. 

Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. 

Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS). 

---