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J Pediatr Intensive Care 2018; 07(01): 062-066
DOI: 10.1055/s-0037-1604270
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene

Daniel J. Zheng
1   Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut, United States
,
Michael Hooper
1   Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut, United States
,
Michele Spencer-Manzon
1   Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut, United States
2   Department of Genetics, Yale School of Medicine, New Haven, Connecticut, United States
,
Richard W. Pierce
1   Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut, United States
› Author Affiliations
Further Information

Publication History

19 May 2017

12 June 2017

Publication Date:
19 July 2017 (online)

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Abstract

We describe a case of succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency in an otherwise healthy 14 month-old female. She presented with lethargy, tachypnea, and hyperpnea with hypoglycemia and a severe anion gap metabolic acidosis. Early management included correction of the acidosis and metabolic support with dextrose and insulin. Inborn errors of metabolism are rare outside the neonatal period. However, SCOT deficiency may present at older ages. Maintaining a high index of suspicion, immediate transfer to a pediatric intensive care unit, and prompt metabolic support are key to achieving a favorable outcome.

Keywords

succinyl-coA:3-oxoacid CoA transferase deficiency - OXCT1 gene - ketoacidosis

Note

All procedures were conducted in compliance with the policies of the Yale Institutional Review Board.


 

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