2004•DergiPark (Istanbul University)Requires access
Metilmalonik asidemi: Olgu sunumu
Feray Güven, Uygur Nihan, Serpil Değirmenci, Gerenli Nelgin, Say Aysu
Open publisher page 0 citations
Abstract
Methylmalonic acidemia is a frequent, otosomal resessive inherited disorder of organic acid metabolism. In this disorder, the accumulation and excretion of methylmalonic acid and its metabolites are increased. The patients are treated with a diet, low in isoleucin, valin, methionin and treonin and with supplementation of biotin, kobalamine and L-carnitene. The survival and neurologic outcome in methylmalonic acidemia is determined by the biochemical response to pharmacological doses of cobalamine and the age of onset of symptoms. We report a case with methylmalonic acidemia presented with poor sucking, vomitting, ketoacidosis, profound hypotonia beginning from the first day of life with the data from the literature.