Methylmalonic acid--an endogenous toxin?
Methylmalonic acid was previously considered as major neurotoxin in methylmalonic acidurias. In contrast, recent studies support the notion that other metabolites deriving from propionyl-coenzyme A, inducing synergistic inhibition of mitochondrial energy metabolism, are more important than methylmalonic acid to understand the neuropathogenesis of this disease. However, it is not yet known whether methylmalonic acid is involved in the induction of other organ manifestations in this disease, such as chronic renal failure.
Kölker
S
S
Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital, Im Neuenheimer Feld 150, 69120, Heidelberg, Germany. Stefan.Koelker@med.uni-heidelberg.de
Okun
J G
JG
D004734:Energy Metabolism; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000378:metabolism; D008764:Methylmalonic Acid / Q000378:metabolism* / Q000652:urine; D008928:Mitochondria / Q000378:metabolism; D009498:Neurotoxins / Q000378:metabolism*; D051437:Renal Insufficiency / Q000378:metabolism
D009498:Neurotoxins; D008764:Methylmalonic Acid