medium chain acyl-CoA dehydrogenase deficiency

info · Genetic

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.

Signs and symptoms

Reduced tissue medium-chain acyl-CoA dehydrogenase activity
Elevated urinary 7-hydroxyoctanoic acid level
Metabolic acidosis
Lethargy
Hepatic steatosis
Medium chain dicarboxylic aciduria
Vomiting
Decreased circulating carnitine concentration
Seizure
Hypotonia