Genetic Conditions > succinyl-CoA:3-ketoacid CoA transferase deficiency >

References

These sources were used to develop the Genetics Home Reference condition summary on succinyl-CoA:3-ketoacid CoA transferase deficiency.

Berry GT, Fukao T, Mitchell GA, Mazur A, Ciafre M, Gibson J, Kondo N, Palmieri MJ. Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. J Inherit Metab Dis. 2001 Oct;24(5):587-95. PubMed citation
Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T. A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene. J Inherit Metab Dis. 2010 Jul 21. [Epub ahead of print]. PubMed citation
Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N. Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. Genomics. 2000 Sep 1;68(2):144-51. PubMed citation
Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Barić I, Zabot MT, Kondo N. Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Biochim Biophys Acta. 2011 May;1812(5):619-24. doi: 10.1016/j.bbadis.2011.01.015. Epub 2011 Feb 2. PubMed citation
Fukao T, Shintaku H, Kusubae R, Zhang GX, Nakamura K, Kondo M, Kondo N. Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis. Pediatr Res. 2004 Dec;56(6):858-63. Epub 2004 Oct 20. PubMed citation


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