Cart

Selected lab test is not available at this location

Dihydrolipomide Dehydrogenase Genetic Test

Test Name

Dihydrolipomide Dehydrogenase Genetic Test

Also known as

Symptoms | Disorders | Treatments

About test

DLDD, also known as maple syrup urine disease type III, is an autosomal recessive disorder with clinical features that include lactic acidosis, hypotonia, poor feeding, vomiting, growth deficiencies and neurological deficits that include intellectual disability, spasticity and seizures. The dihydrolipoamide dehydrogenase deficiency (DLDD) test offers molecular detection of two pathogenic variants in the DLD gene, G229C and Y35.

Cart

Selected lab test is not available at this location