Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Hereditary peripheral neuropathy · Inborn carbohydrate metabolic disorder · Inborn mitochondrial metabolism disorder · Pyruvate metabolism disorder
Pyruvate dehydrogenase deficiency
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. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.
-
Lipoic acid synthetase deficiency 0 trials
-
Pyruvate dehydrogenase E2 deficiency 0 trials