Alteraçoes oteneurológicas em deficiência sistêmica de carnitina: relato de um caso / Otoneurologic alteration in carnitine deficiency: report of case

ABSTRACT

Mitochondrial disorders can be caused by carnitine deficiency. Carnitine is a cofactor in the transport of long-chain free fatty acids into mitochondria, weher they will be metabolized in order to produce energy for the cell. Patients with carnitine deficiency generally present episodes of intensive vomiting, progressive musuclar weaknes, encephalopathy and metabolic acidosis. We report a case of a 5-year-old patient, female, whose twin sister died or recurrent episodes of intense vomiting. The patient presented intense vomiting, loss of balance, dehydratation and progressive muscular weakness. Seh also presented vertigo (irritative vestibular syndrome) and a moderate sensorineural hearing loss with a good vocal discrination. In the inner ear, the stria vascularis is a highly vasculari structure with a great mitochondrial concentration, and it is necessary to keep a high level of potassium in the endolymph. When there is not a sufficient supply of glucose, the fatty acid are used in order to produce energy. This is how patients with carnitine deficiency can eventually present labyrinthine disorders