Medium-Chain Acyl-CoA Dehydrogenase Deficiency
MCAD deficiency

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Prevalence (%) of clinical parameters based on data from 3 references describing 208 individuals







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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,



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,



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,



The Journal of pediatrics - May 2006