SCOT Deficiency Mimicking Sepsis: An Unusual Cause of Increased Anion Gap Metabolic Acidosis

Year 2024, Volume: 8 Issue: 2, 507 - 510, 31.05.2024

Pelin Teke Kısa , Semra Gürsoy , Pınar Seven , Neslihan Pirinc , Özlem Saraç Sandal , Gülhan Atakul , Filiz Hazan , Tijen Tanyalcın

https://doi.org/10.30621/jbachs.1217436

Abstract

Introduction: Succinyl-CoA:3-oxoacid CoA transferase (SCOT, EC 2.8.3.5) deficiency is a rare autosomal recessive inborn error of metabolism (IEM). We report here an infant admitted to intensive care unit with the diagnosis of sepsis.
Case Presentation: A five-month-old female patient was admitted to the intensive care unit with lethargy and respiratory distress. She had severe high anion gap metabolic acidosis. The IEM was screened by plasma amino acid analysis, showing no abnormalities, and by acylcarnitine analysis, showing low-normal levels of free carnitine. Urine organic acid analysis revealed massive ketonuria and elevated levels of dicarboxylic acids. Fatty acid oxidation disorder-targeted gene panel revealed a homozygous splice site variant (c.78+1_78+6 del) in the OXCT1 gene.
Discussion and Conclusion: SCOT deficiency should be considered when massive ketosis is detected in increased anion gap metabolic acidosis with sepsis-like manifestation. Supportive therapy should be initiated quickly to prevent irreversible neurological damage.

Keywords

metabolic acidosis, scot deficiency, anion gap

SCOT Deficiency Mimicking Sepsis: An Unusual Cause of Increased Anion Gap Metabolic Acidosis

Abstract

Keywords

metabolic acidosis

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