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Last Updated: 10/31/2025

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Found 32 publications

Pancrelipase as Adjunctive Therapy in Severe SCOT Deficiency: A Case of a Novel OXCT1 Gene Deletion.

Pancrelipase as Adjunctive Therapy in Severe SCOT Deficiency: A Case of a Novel OXCT1 Gene Deletion.

Journal: JIMD reports
Published: February 06, 2025

Ketone ester administration improves glycemia in obese mice.

Ketone ester administration improves glycemia in obese mice.

Journal: American journal of physiology. Cell physiology
Published: August 14, 2023

Succinyl CoA:3 oxoacid CoA transferase deficiency: A case report

Succinyl CoA:3 oxoacid CoA transferase deficiency: A case report

Journal: Revista medica del Instituto Mexicano del Seguro Social
Published: January 07, 2023

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

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

Journal: Indian journal of pediatrics
Published: January 01, 2023

A case of severe acidosis in a 12-month-old: Succinyl-CoA:3-ketoacid-CoA transferase deficiency with OXCT1 gene mutations.

A case of severe acidosis in a 12-month-old: Succinyl-CoA:3-ketoacid-CoA transferase deficiency with OXCT1 gene mutations.

Journal: SAGE open medical case reports
Published: December 16, 2021

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

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

Journal: Iranian journal of child neurology
Published: August 28, 2021

Clinical variability and outcome of succinyl-CoA:3-ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases.

Clinical variability and outcome of succinyl-CoA:3-ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases.

Journal: JIMD reports
Published: June 06, 2021

Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.

Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.

Journal: Biochimie
Published: August 14, 2020

A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency.

A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency.

Journal: Yonsei medical journal
Published: October 04, 2018

A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene.

A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene.

Journal: Journal of pediatric intensive care
Published: May 19, 2017

When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria.

When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: May 01, 2017

Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.

Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.

Journal: Journal of inherited metabolic disease
Published: March 08, 2017
Showing 1-12 of 32

Last Updated: 10/31/2025