Dihydrolipoamide dehydrogenase deficiency
Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders.
The disorder is caused by mutations in the DLD gene (7q31-q32). The pattern of inheritance is autosomal recessive. The main mutation is c.685G>T (p.Gly229Cys). In the Ashkenazi Jewish population, the carrier frequency of this pathogenic variant is estimated between 1/94 and 1/110 with an estimated disease frequency of 1/35,000 to 1/48,000.
GENE OR REGION STUDIED