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Journals / Journal of Basic and Clinical Health Sciences / 2026 / Volume: 8 Issue: 2

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

Pelin Teke Kısa(SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, İZMİR DR. BEHÇET UZ ÇOCUK HASTALIKLARI VE CERRAHİSİ SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ)0000-0001-6481-3172
Semra Gürsoy(DOKUZ EYLUL UNIVERSITY)0000-0002-6795-3012
Pınar Seven(SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, İZMİR DR. BEHÇET UZ ÇOCUK HASTALIKLARI VE CERRAHİSİ SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ)0000-0001-7305-9984
Neslihan Pirinc(UNIVERSITY OF HEALTH SCIENCES, İZMİR DR. BEHÇET UZ HEALTH RESEARCH CENTER FOR PEDIATRIC DISEASES AND SURGERY)0000-0001-6219-1541
Özlem Saraç Sandal(UNIVERSITY OF HEALTH SCIENCES, İZMİR DR. BEHÇET UZ HEALTH RESEARCH CENTER FOR PEDIATRIC DISEASES AND SURGERY)0000-0003-2684-0625
Gülhan Atakul(UNIVERSITY OF HEALTH SCIENCES, İZMİR DR. BEHÇET UZ HEALTH RESEARCH CENTER FOR PEDIATRIC DISEASES AND SURGERY)0000-0002-3832-9691
Filiz Hazan(UNIVERSITY OF HEALTH SCIENCES, İZMİR DR. BEHÇET UZ HEALTH RESEARCH CENTER FOR PEDIATRIC DISEASES AND SURGERY)0000-0002-0382-3446
Tijen Tanyalcın0000-0003-2191-4007
Pages
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Publication Date
2024-05-31
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Supportive therapy should be initiated quickly to prevent irreversible neurological damage.

📌 3 Key Takeaways

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Objective & Hypothesis:Introduction: Succinyl-CoA:3-oxoacid CoA transferase (SCOT, EC 2.8.3.5) deficiency is a rare autosomal recessive inborn error of metabolism (IEM).
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Key Findings & Data:Fatty acid oxidation disorder-targeted gene panel revealed a homozygous splice site variant (c.78+1_78+6 del) in the OXCT1 gene.
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Conclusion & Impact:Supportive therapy should be initiated quickly to prevent irreversible neurological damage.
🔬Design:Case Report
📍Scope:Comprehensive Sample
⚙️Variables:metabolic acidosis · scot deficiency · anion gap

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.

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Cite This Article

Kısa, P. T., Gürsoy, S., Seven, P., Pirinc, N., Sandal, Ö. S., Atakul, G., Hazan, F., Tanyalcın, T. (2024). SCOT Deficiency Mimicking Sepsis: An Unusual Cause of Increased Anion Gap Metabolic Acidosis. Journal of Basic and Clinical Health Sciences, Volume: 8 Issue: 2. https://doi.org/10.30621/jbachs.1217436

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