Abstract

OSORIO, José Henry; RIBES, Antonia  and  LLUC, Montse. "IN VITRO" DIAGNOSIS OF SHORT CHAIN ACYL Co-A DEHYDROGENASE DEFICIENCY. Biosalud [online]. 2009, vol.8, n.1, pp.96-101. ISSN 1657-9550.

Short-chain acyl-CoA dehydrogenase (SCAD) is the key enzyme for degrading fatty acids with a 4-6 atoms carbon chain. It is necessary to always confirm this deficiency using laboratory methods. Fibroblasts of patients suffering SCAD deficiency were incubated with tritiated palmitate and miristatesubstrates. A significant difference (p<0.05) was found when comparing tritiated palmitate and miristate degradation between controls and patients suffering SCAD deficiency.

Keywords : SCAD; fatty acids; metabolism; inherited inborn metabolic errors; fibroblasts.

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