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Case Reports
. 2015 Jul 28;85(4):e37-40.
doi: 10.1212/WNL.0000000000001786.

Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency

Valerie Gartner  1 , Peter J McGuire  1 , Paul R Lee  2
Affiliations
Case Reports

Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency

Valerie Gartner et al. Neurology. .
No abstract available

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Figures

Figure
Figure. Pathophysiology of patient with MCADD in crisis
In response to an increased need for energy, the body utilizes glycogen stores and releases free fatty acids for use in β-oxidation. Normal β-oxidation begins with a dehydrogenation reaction catalyzed by a length-dependent acyl-CoA dehydrogenase to produce FADH2 and an enoyl derivative. Next, the β-carbon undergoes hydroxylation, which is then removed by a second dehydrogenase reaction to produce NADH and 3-ketoacyl-CoA. The final reaction is catalyzed by a second coenzyme A molecule, which attacks at the β-carbon to produce acetyl-CoA and a fatty acyl-CoA that is 2 carbons shorter and will undergo further oxidation until reduced entirely to acetyl-CoA. With the loss or insufficiency of medium-chain acyl-CoA dehydrogenase, several critical processes needed to (re)generate energy sources are severely hindered, indicated here in red. Without medium-chain acyl-coenzyme A dehydrogenase (MCAD), the oxidation of all fatty acyl-CoAs that contain more than 6 carbons is greatly reduced, leading to a significant reduction of available substrate for ketogenesis, adenosine triphosphate (ATP) synthesis, and the Krebs cycle. Downstream effects include insufficient substrate of gluconeogenesis, which acts in concert with the depletion of glycogen stores to exacerbate the patient's severe hypoglycemia. The cumulative effects result in a rapidly decompensating patient in urgent need of medical care.
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References

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