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:
1
Gene:
1
Variant:
1
Reference:
1
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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