Fumaric aciduria
Overview
Fumaric aciduria: A rare inborn metabolic error where a deficiency of the enzyme fumarase due to a genetic defect impairs the body's ability to break down fumarate into malate which results in increased fumaric acid levels in the urine.
Symptoms
Increased level of fumaric acid in urine Increased level of fumaric acid in blood Reduced muscle tone Psychomotor retardation Seizures
Causes
The condition is an autosomal recessive disorder, and it is therefore usually necessary for an affected individual to receive the mutant allele from both parents. A number of children diagnosed with the disorder have been born to parents who were first cousins.It can also be associated with uniparental isodisomy.