Medium-Chain Acyl-CoA Dehydrogenase Deficiency
MCAD deficiency

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Description from OMIM

Inherited deficiency of medium-chain acyl-CoA dehydrogenase is characterized by intolerance to prolonged fasting, recurrent episodes of hypoglycemic coma with medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue carnitine levels. The disorder may be severe, and even fatal, in young patients (Matsubara et al., 1986).

Prevalence of clinical parameters (%)

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Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Coma nervous 100 % 6646897 2011-11-21
Hypoglycemia multi 100 % 6646897 2011-11-21
Hyperammonemia circulatory 100 % 6646897 2011-11-21
Steatosis digestive 100 % 6646897 2011-12-05
Low plasma carnitine circulatory 100 % 6646897 2011-12-05
Increased blood transaminase circulatory 100 % 8120710 2014-04-28
Hypoglycemia circulatory 100 % 8120710 2014-04-28
Increased blood LDH circulatory 100 % 8120710 2014-04-28
Hypoglycemia circulatory 89 % 16737882 2014-04-28
Lethargy nervous 84 % 8120710 2011-12-05
Decreased serum bicarbonate circulatory 69 % 8120710 2014-04-28
Vomiting digestive 66 % 8120710 2011-12-05
Encephalopathy nervous 49 % 8120710 2011-12-05
Respiratory failure respiratory 48 % 8120710 2011-12-05
Hepatomegaly digestive 44 % 8120710 2011-12-05
Seizures nervous 43 % 8120710 2011-12-05
Exercise intolerance skeletal 39 % 16737882 2014-04-28
Apnea respiratory 37 % 8120710 2011-12-05
Cardiac arrest circulatory 36 % 8120710 2011-12-05
Fatigue skeletal 35 % 16737882 2014-04-28
Cerebral edema multi 33 % 6646897 2011-11-21
Myalgia skeletal 31 % 16737882 2014-04-28
Sudden death multi 18 % 8120710 2011-12-05

List of references:

Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels.
C A Stanley, D E Hale, P M Coates, C L Hall, B E Corkey, W Yang, R I Kelley, E L Gonzales, J R Williamson, L Baker,

Three children in two families presented in early childhood with episodes of illness associated with fasting which resembled Reye's syndrome: coma, hypoglycemia, hyperammonemia, and fatty liver. One child died with cerebral edema during an episode. Clinical studies revealed an absence of ketosis on fasting (plasma beta-hydroxybutyrate less than 0.4 mmole/liter) despite elevated levels of free fatty acids (2.6-4.2 mmole/liter) which suggested that hepatic fatty acid oxidation was impaired. Urinary dicarboxylic acids were elevated during illness or fasting. Total carnitine levels were low in plasma (18-25 mumole/liter), liver (200-500 nmole/g), and muscle (500-800 nmole/g); however, treatment with L-carnitine failed to correct the defect in ketogenesis. Studies on ketone production from fatty acid substrates by liver tissue in vitro showed normal rates from short-chain fatty acids, but very low rates from all medium and long-chain fatty acid substrates. These results suggested that the defect was in the mid-portion of the intramitochondrial beta-oxidation pathway at the medium-chain acyl-CoA dehydrogenase step. A new assay for the electron transfer flavoprotein-linked acyl-CoA dehydrogenases was used to test this hypothesis. This assay follows the decrease in electron transfer flavoprotein fluorescence as it is reduced by acyl-CoA-acyl-CoA dehydrogenase complex. Results with octanoyl-CoA as substrate indicated that patients had less than 2.5% normal activity of medium-chain acyl-CoA dehydrogenase. The activities of short-chain and isovaleryl acyl-CoA dehydrogenases were normal; the activity of long-chain acyl-CoA dehydrogenase was one-third normal. These results define a previously unrecognized inherited metabolic disorder of fatty acid oxidation due to deficiency of medium-chain acyl-CoA dehydrogenase.

Pediatric research - Nov 1983

Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
A K Iafolla, R J Thompson, C R Roe,

Medium-chain acyl-coenzyme A dehydrogenase deficiency is an autosomal recessive disorder of beta-oxidation of fatty acids manifested by episodic hypoglycemia, encephalopathy, apnea, and sudden death. Medical data were obtained on 120 patients with medium-chain acyl-coenzyme A dehydrogenase deficiency referred to Duke University Medical Center for biochemical testing. There were 55 male and 65 female subjects ranging from birth to 19 years of age; 118 subjects were white. Twenty-three children (19%) died before the diagnosis was made. Follow-up data were available in the 97 surviving patients for an average of 2.6 years after diagnosis. Psychodevelopmental data were collected on 73 patients older than 2 years of age. Unexpected morbidity included developmental and behavioral disability, chronic muscle weakness, failure to thrive, and cerebral palsy. We conclude that unidentified patients with this disorder have a significant risk of sudden death in early childhood and that survivors have a significant risk of developmental disability and chronic somatic illness.

The Journal of pediatrics - Mar 1994

The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.
Terry G J Derks, Dirk-Jan Reijngoud, Hans R Waterham, Willem-Jan M Gerver, Maarten P van den Berg, Pieter J J Sauer, G Peter A Smit,

To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

The Journal of pediatrics - May 2006