Medium-Chain Acyl-CoA Dehydrogenase Deficiency
MCAD deficiency

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Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
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