The present study was conducted to determine the possible presence of the 625G>A variation in the short-chain acyl-CoA dehydrogenase gene in Caldas, Colombia, as the 625G>A and 511C>T variations are present in 14% of some populations studied, sometimes causing its deficiency.
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a clinically heterogeneous disorder.
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myophaty and secondary carnitine deficiency.
Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis.
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
First report for 625G>A polymorphism in the short-chain acyl-coa dehydrogenase
gen in South America.
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase
(SCAD) gene in two patients: one of the variant alleles, 511C [right arrow] or [vector] T, is present at an unexpectedly high frequency in the general population, as was the case for 625G [right arrow] or [vector] A, together conferring susceptibility to ethylmalonic aciduria.