Dihydrolipoamide Dehydrogenase (DLD) Deficiency

Use

The dihydrolipoamide dehydrogenase deficiency (DLDD) test offers molecular detection of two pathogenic variants in the DLD gene, G229C (c.685G>T) and Y35* (c.104dupA), which account for greater than 95% of Ashkenazi‑Jewish DLDD variants. 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.