Multiple Acyl-CoA Dehydrogenase Deficiency
MAD deficiency

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Prevalence (%) of clinical parameters based on data from 3 references describing 28 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
Myalgia skeletal 100 % 20370797 2012-07-26
Increased blood CK circulatory 100 % 20370797 2012-07-26
Muscle weakness skeletal 89 % 20370797 2012-07-26
Steatosis digestive 75 % 2658591 2011-12-05
Hypotonia nervous 66 % 17977044 2012-07-26
Hypoglycemia circulatory 66 % 17977044 2012-07-26
Ethylmalonic aciduria circulatory 62 % 2658591 2011-11-21
Hypotonia nervous 56 % 2658591 2011-11-21
Hepatomegaly multi 44 % 2658591 2011-11-21
Gliosis nervous 44 % 2658591 2011-11-21
Dysphagia nervous 44 % 20370797 2012-07-26
Increased blood transaminase digestive 33 % 17977044 2012-07-26
Hepatomegaly digestive 33 % 17977044 2012-07-26
Hyperammonemia circulatory 33 % 17977044 2012-07-26
Failure to thrive multi 33 % 17977044 2012-07-26
Cardiac arrhythmia circulatory 33 % 17977044 2012-07-26
Hypothermia multi 33 % 17977044 2012-07-26
Developmental delay multi 33 % 17977044 2012-07-26
Seizures nervous 33 % 17977044 2012-07-26
Fatty heart multi 31 % 2658591 2011-11-21
Hypertelorism multi 31 % 2658591 2011-11-21
Macrocephaly nervous 25 % 2658591 2011-12-05
Hepatopathy digestive 22 % 20370797 2012-07-26
Heterotopia nervous 19 % 2658591 2011-12-05
Micrognathia multi 13 % 2658591 2011-11-21
High arched palate digestive 13 % 2658591 2011-12-11
Congestive heart failure circulatory 11 % 20370797 2012-07-26
Cardiac arrhythmia circulatory 11 % 20370797 2012-07-26
Seizures nervous 11 % 20370797 2012-07-26
Hypoglycemia circulatory 11 % 20370797 2012-07-26
Steatosis digestive 11 % 20370797 2012-07-26



List of references:


High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
M-Y Lan, M-H Fu, Y-F Liu, C-C Huang, Y-Y Chang, J-S Liu, C-H Peng, S-S Chen,



Clinical genetics - Dec 2010



Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
G N Wilson, J P de Chadarévian, P Kaplan, J P Loehr, F E Frerman, S I Goodman,



American journal of medical genetics - Mar 1989



Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.
Brad Angle, Barbara K Burton,



Molecular genetics and metabolism - Jan 2008