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A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Abstract:

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism, characterized by ketoacidotic episodes and often permanent ketosis. To date there are ~20 disease-associated alleles on the OXCT1 gene that encodes the mitochondrial enzyme SCOT. SCOT catalyzes the first, rate-limiting step of ketone body utilization in peripheral tissues, by transferring a CoA moiety from succinyl-CoA to form acetoacetyl-CoA, for entry into the tricarboxylic...

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Publication status:
Published

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Publisher copy:
10.1007/s10545-013-9589-z

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Journal:
Journal of inherited metabolic disease More from this journal
Volume:
36
Issue:
6
Pages:
983-987
Publication date:
2013-11-01
DOI:
EISSN:
1573-2665
ISSN:
0141-8955

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