Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency

Last update 08 May 2025

Basic Info

Synonyms

3-Ketoacid CoA transferase deficiency, KETOACIDOSIS DUE TO SCOT DEFICIENCY, Ketoacidosis due to SCOT deficiency

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Introduction

A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.

Clinical Trials associated with Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency

NCT05687474

/ RecruitingNot ApplicableIIT

Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life.
Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

Start Date01 Sep 2022

Sponsor / Collaborator

Centre Hospitalier Universitaire de Liege

[+5]

JPRN-UMIN000003717

/ CompletedNot ApplicableIIT

Epidemiological studies for clinical manifestations and case numbers of inborn errors of ketone body metabolism (HMG-CoA syntase deficiency, HMG-CoA lyase deficiency, beta-ketothiolase deficiency, SCOT deficiency) - Epidemiological studies of inborn errors of ketone body metabolism

Start Date01 Jun 2010

Sponsor / Collaborator-

100 Clinical Results associated with Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency

100 Translational Medicine associated with Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency

0 Patents (Medical) associated with Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency

Literatures (Medical) associated with Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency

04 Sep 2023·Revista medica del Instituto Mexicano del Seguro Social

[Succinyl CoA:3 oxoacid CoA transferase deficiency: A case report].

Article

Author: Pérez-Verdín, Ana Elena ; Jurado-Aguirre, Miguel Angel

BackgroundSuccinyl-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 caseIt 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.ConclusionBeing a rare disease, the categorization of these patients as diabetic ketoacidosis is frequent. The clinical and biochemical characteristics with ketosis or persistent ketonuria should be analyzed very carefully, especially in patients presenting with hyperglycemia, which is an atypical manifestation of the disease, in order to make an early diagnosis and treatment, positively impacting the prognosis of patients.

01 May 2023·Indian journal of pediatrics

SCOT Deficiency - A Fatal Metabolic Disorder Treated with Peritoneal Dialysis.

Letter

Author: Chandran, Pooja ; Am, Shameem ; Kc, Sadik ; Mp, Jayakrishnan

01 Jan 2023·Iranian journal of child neurology

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

Author: Asadollahi, Mostafa ; Keramatipour, Mohammad ; Hosseini, Rozita ; Talebi, Saeed ; Amirkashani, Davoud ; Golchehre, Zahra

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.

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Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency

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