L-Carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: A pilot study

@article{Lee2005LCarnitineAE,
  title={L-Carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: A pilot study},
  author={P. J. Lee and E. L. Harrison and M. G. Jones and S. Jones and James V. Leonard and Ronald A. Chalmers},
  journal={Journal of Inherited Metabolic Disease},
  year={2005},
  volume={28},
  pages={141-152}
}
SummarySkeletal muscle function may be impaired in patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, but the value of L-carnitine in their long-term management is not clear. This study was designed as a pilot to examine the effects of L-carnitine on exercise tolerance in patients with MCAD deficiency. Four clinically asymoptomatic MCAD-deficient patients, aged 8 to 20 years, were studied. Incremental ramp exercise tests were carried out before and after 4 weeks’ treatment… 

Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation.

It is indicated that patients with MCADD have an impaired ability to increase FAO during exercise but less so than that observed in patients with a number of other disorders of fat oxidation, which explains the milder skeletal muscle phenotype in MCADD.

Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency

It is suggested that medium-chain acyl-CoA dehydrogenase deficiency patients are able to increase carnitine biosynthesis during exercise to compensate for Carnitine losses.

L-Carnitine Supplementation: Influence upon Physiological Function

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This clinical report is to provide pediatricians with additional information regarding the acute clinical care of patients with medium-chain acyl-coenzyme A dehydrogenase deficiency.

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

Critical questions that are currently under debate in mitochondrial fatty acid oxidation (FAO) defects are discussed, including the use of bezafibrates in myopathic long-chain defects and whether triheptanoin is more effective than even-chain MCT.

Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycaemia in an apparently well child

This is a case of an otherwise healthy 23-month-old baby girl who presented with severe hypoglycaemia with some initial diagnostic dilemma.

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency-GeneReviews®-NCBI Bookshelf

The prognosis is excellent once the diagnosis is established and frequent feedings are instituted to avoid any prolonged period of fasting.

Liver Disease in Children: Inborn Errors of Mitochondrial Fatty Acid Oxidation

FAO disorders have become an important group of inherited metabolic disorders causing morbidity and mortality and may cause sudden unexpected death if unrecognized and untreated.

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