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
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10114279 | PMC |
| http://dx.doi.org/10.22037/ijcn.v17i2.35963 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability.
EBioMedicine
January 2024
Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy, F-54000, France; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, Nancy, F-54000, France. Electronic address:
Article Synopsis
- - The study investigates the complex clinical and metabolic effects associated with inborn errors of cobalamin metabolism, particularly focusing on cblC and epi-cblC cases, to better understand their variability and underlying mechanisms.
- - Researchers utilized metabolomic, genomic, proteomic, and post-translational modification analyses on fibroblasts from cblC and cblG patient cases, revealing notable disruptions in metabolic pathways such as the urea cycle and mitochondrial energy production.
- - Findings highlight significant changes in enzyme expression and activity, which could explain clinical symptoms like neurological issues and developmental delays in patients; further research is needed to confirm these connections.
[Succinyl CoA:3 oxoacid CoA transferase deficiency: A case report].
Rev Med Inst Mex Seguro Soc
September 2023
Instituto Mexicano del Seguro Social, Centro Médico Nacional de Occidente, Hospital de Especialidades "Lic. Ignacio García Téllez", Departamento de Endocrinología. Guadalajara, Jalisco, México.
Background: Succinyl-CoA:3 oxoacid CoA transferase deficiency (SCOTD) is a rare autosomal recessive disease, characterized by altered utilization of ketone bodies, with acute episodes of ketoacidosis.
Clinical Case: It is presented the case of a patient with SCOTD, with a first atypical episode accompanied by hyperglycemia, with 4 subsequent episodes with classic manifestations of the disease, presenting with a biochemical pattern of permanent ketonuria with marked elevation of ketone bodies (acetoacetate, 3 beta-hydroxybutyrate) in the study of urinary organic acids by gas chromatography and mass spectrometry, together with the clinical picture granting the diagnosis. It was started a maintenance therapy with a characteristic feeding plan; it was shown an adequate response to treatment, and the absence of permanent ketosis was surmised.
Ketone ester administration improves glycemia in obese mice.
Am J Physiol Cell Physiol
September 2023
Faculty of Pharmacy and Pharmaceutical Sciences, University of Alberta, Edmonton, Alberta, Canada.
During periods of prolonged fasting/starvation, the liver generates ketones [i.e., β-hydroxybutyrate (βOHB)] that primarily serve as alternative substrates for ATP production.
View Article and Find Full Text PDFA Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations.
Iran J Child Neurol
March 2023
Watson Genetic Laboratory, Tehran, Iran.
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.
View Article and Find Full Text PDFSCOT Deficiency - A Fatal Metabolic Disorder Treated with Peritoneal Dialysis.
Indian J Pediatr
May 2023
Department of Pediatrics, Government Medical College, Kozhikode, Kerala, 673008, India.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!