A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations

Succinyl-CoA:3-oxoacid CoA-transferase (SCOT) deficiency is an inborn error of ketone body utilization characterized by intermittent ketoacidosis crises. This study reports the first Iranian patient with SCOT deficiency who presented with seizure and hypotonia at birth. Accordingly, she was conseque...

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Published inIranian journal of child neurology Vol. 17; no. 2; pp. 127 - 133
Main Authors Amirkashani, Davoud, Asadollahi, Mostafa, Hosseini, Rozita, Talebi, Saeed, Golchehre, Zahra, Keramatipour, Mohammad
Format Journal Article
LanguageEnglish
Published Iran Iranian Child Neurology Society 01.01.2023
Shahid Beheshti University of Medical Sciences
Subjects
3-Oxoacid CoA-transferase
Acidosis
Bicarbonates
Case Report
CoA transferase
Diagnosis
Hyperammonemia
Ketoacidosis
Ketonuria
Low fat diet
Low protein diet
Metabolic acidosis
Metabolic disorders
Metabolism
Mutation
Nonsense mutation
Nutrient deficiency
Seizures
Succinyl-CoA
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Iran
OXCT1 gene
Next-generation sequencing (NGS)
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Summary:Succinyl-CoA:3-oxoacid CoA-transferase (SCOT) deficiency is an inborn error of ketone body utilization characterized by intermittent ketoacidosis crises. This study reports the first Iranian patient with SCOT deficiency who presented with seizure and hypotonia at birth. Accordingly, she was consequently re-hospitalized due to hypotonia and respiratory distress. Laboratory tests revealed hyperammonemia, ketonuria, and metabolic acidosis. Besides, the plasma glucose level was normal without any other abnormality. Despite treatment with high-dose bicarbonate, severe acidosis persisted. Poor response to treatment raised a significant diagnostic challenge among specialists until genetic investigation identified a homozygous nonsense mutation (c.79G>T; p.Gly27*) in the OXCT1 gene (NM_000436), causing SCOT deficiency. Genetic studies help clinicians achieve a definite diagnosis of such metabolic disorders. In this case, the accurate and early diagnosis of SCOT deficiency opened new therapeutic possibilities, including frequent carbohydrate-rich meals and low fat and protein diet. Moreover, our findings expand the mutational and clinical spectrum of SCOT deficiency
ISSN:1735-4668
2008-0700
DOI:10.22037/ijcn.v17i2.35963