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medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency)
Epidemiology: frequency is 1 in 13000
Pathology:
- fasting hypoglycemia
- hepatic dysfunction
- encephalopathy
- often results in death in infancy
Genetics:
- autosomal recessive
- associated with defects in ACADM gene
Clinical manifestations:
- usually manifests itself during the 1st 2 years of life following fast of > 12 hours
- symptoms include vomiting, lethargy, coma
Laboratory:
- hypoketonic hypoglycemia
- dicarboxylic aciduria
Complications:
- associated with Reye-like syndrome or 'sudden infant death'
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
Database Correlations
OMIM 201450
References
OMIM :accession 201450