Syndromiczna czuciowo-nerwowa utrata słuchu spowodowana złożonym niedoborem fosforylacji oksydacyjnej

A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.