Medium-Long-Chain Chimeric Human Acyl-CoA Dehydrogenase: Medium-Chain Enzyme with the Active Center Base Arrangement of Long-Chain Acyl-CoA Dehydrogenase†

Medium-long-chain chimeric human Acyl-CoA dehydrogenase: medium-chain enzyme with the active center base arrangement of long-chain Acyl-CoA dehydrogenase.

The catalytically essential glutamate residue that initiates catalysis by abstracting the substrate alpha-hydrogen as H+ is located at position 376 (mature MCADH numbering) on loop JK in medium chain acyl-CoA dehydrogenase (MCADH). In long chain acyl-CoA dehydrogenase (LCADH) and isovaleryl-CoA dehydrogenase (IVDH), the corresponding Glu carrying out the same function is placed at position 255 ...

[Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency].

common disorder of fatty acid oxidation affecting 1 in 13,000 newborns and is inherited as an autosomal recessive disorder. This enzyme deficiency results in the inability to catabolize medium-chain (6-12 carbon molecules) fatty acids for energy utilization. MCAD deficiency often presents in the first two years of life after viral illness or fasting. This inability to break down medium-chain li...

[Medium-chain acyl-CoA dehydrogenase deficiency].

From 65 reported cases of medium chain acyl-CoA dehydrogenase deficiency, we found an average presenting age of 13.5 months and a mean age at death of 18.5 months. One quarter of patients died of a Reye-like syndrome and/or sudden infant death. In half the cases there had been at least one sibling death. Asymptomatic cases were not uncommon (12% of cases). The crises were generally induced by a...

Medium chain acyl-CoA dehydrogenase deficiency

From 65 reported cases of medium chain acylCoA dehydrogenase deficiency, we found an average presenting age of 13-5 months and a mean age at death of 18-5 months. One quarter of patients died of a Reye-like syndrome and/or sudden infant death. In half the cases there had been at least one sibling death. Asymptomatic cases were not uncommon (12% of cases). The crises were generally induced by a ...

[Very-long-chain acyl-CoA dehydrogenase deficiency].