%0 Journal Article
%T COMPARACI¨®N DE DOS T¨¦CNICAS COMO HERRAMIENTA DIAGN¨®STICA DE LA DEFICIENCIA DE CARNITINA ACILCARNITINA TRANSLOCASA
%A Osorio
%A Jos¨¦ Henry
%J Biosalud
%D 2012
%I Scientific Electronic Library Online
%X objective: to compare two laboratory diagnosis techniques for carnitine acylcarnitine translocase deficiency, a rare inherited autosomal recessive disorder in fatty acid oxidation. materials and methods: fibroblasts of patients and controls were incubated with tritiated substrates and deuterated substrates. results: a severe depression for oxidizing the tritiated substrates was observed for the fibroblasts of patients with this disease; however it was not possible to establish a characteristic profile for the diagnosis of the disease using deuterated substrates. conclusion: the incubation of fibroblasts using tritiated substrates constitutes a good tool for laboratory diagnosis of patients suffering carnitine-acylcarnitine translocase deficiency, in contrast, incubation with deuterated substrates does not.
%K fatty acids
%K carnitine
%K metabolism
%K inborn errors of metabolism
%K fibroblasts
%K isotope labeling.
%U http://www.scielo.org.co/scielo.php?script=sci_abstract&pid=S1657-95502012000100003&lng=en&nrm=iso&tlng=en