Pyruvat dehydrogenese defect
Også kjent som: Pyruvate dehydrogenase deficiency
Engelsk navn: Pyruvate dehydrogenase deficiency
Engelske synonym: PDH,PDHC,Pyruvate dehydrogenase complex deficiency
Definisjon
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. 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 (see these terms).
Fra Orphanet
ORPHA: 765
Klassifiseringsnivå: Disorder
ICD-10: E74.4
