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'

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis

Database

• OMIM: https://mirror.omim.org/entry/201450