very long chain acyl-CoA dehydrogenase deficiency

info · Genetic

A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids.

Signs and symptoms

Hepatic steatosis
Lethargy
Decreased circulating carnitine concentration
Hypotonia
Hepatomegaly
Hyperammonemia
Episodic vomiting
Hypertrophic cardiomyopathy
Respiratory arrest
Microcephaly

Also known as: VLCAD deficiency