short chain acyl-CoA dehydrogenase deficiency

info · Genetic

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

Signs and symptoms

Global developmental delay
Hypotonia
Delayed speech and language development
Lethargy
Scoliosis
Flexion contracture
Seizure
Failure to thrive
Ethylmalonic aciduria
Episodic metabolic acidosis