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The main research interests of our group are clinical features and pathogenetic mechanisms of mitochondrial fatty acid oxidation defects. Mitochondrial fatty acid β-oxidation is the main energy producing pathway during fasting and long-term exercise. Autosomally recessively inherited defects affecting this pathway present neonatally or in infancy as severe metabolic crises leading to handicap or death. Early diagnosis and start of the dietary therapy dramatically improves prognosis of these disorders. Our main focus is in two defects most commonly diagnosed in Finland: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and carnitine palmitoyltransferase 1. Our experimental research projects concentrate in solving pathogenesis of unusual features of LCHAD deficiency progressive pigmentary retinopathy and peripheral neuropathy.

 

 

Page updated June 28, 2011
Webmaster Erika Weckström firstname.lastname [at] helsinki.fi