Disorder "Medium chain acyl-CoA dehydrogenase deficiency"
Found 1 record
Disorder information
Disorder name:
Medium chain acyl-CoA dehydrogenase deficiency 
Disoder ID:
OMIM entry:
Synonyms:
MCAD deficiency, medium chain acyl-coenzyme A dehydrogenase deficiency, ACADM deficiency, MCADD, acyl-CoA dehydrogenase, medium-chain deficiency, medium chain acyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, MCAD, medium-chain acyl-Coenzyme A dehydrogenase deficiency, Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency 
Definition:
A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-coa dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
ACADM ACADM:rs74090726 Penetrance  Altered incidence  Gene activity study  Protects from deleterious mutationsmore more
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