Beta-Ketothiolase Deficiency Latest Advances

Find the Latest Research About Beta-Ketothiolase Deficiency

Last Updated: 06/30/2026

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Found 38 publications

A case of β-ketothiolase deficiency caused by ACAT1 gene variations with atypical biochemical phenotype

A case of β-ketothiolase deficiency caused by ACAT1 gene variations with atypical biochemical phenotype

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: April 15, 2026

Is Beta Ketothiolase Deficiency an Uncommon Disease or an Unsuspected Diagnosis? The Role of Genetic Biochemistry Approaches in Metabolic Acidosis.

Is Beta Ketothiolase Deficiency an Uncommon Disease or an Unsuspected Diagnosis? The Role of Genetic Biochemistry Approaches in Metabolic Acidosis.

Journal: Pediatric reports
Published: August 04, 2025

Molecular characterization, clinical phenotype, and neurological outcome of twelve Palestinian children with beta-ketothiolase deficiency: report of two novel variants in the ACAT1 gene.

Molecular characterization, clinical phenotype, and neurological outcome of twelve Palestinian children with beta-ketothiolase deficiency: report of two novel variants in the ACAT1 gene.

Journal: BMC medical genomics
Published: March 07, 2025

Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes

Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: April 29, 2024

Clinical features and genetic analysis of three children with β-ketothiolase deficiency

Clinical features and genetic analysis of three children with β-ketothiolase deficiency

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: March 06, 2024

Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency

Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: December 28, 2023

Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy.

Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: March 28, 2022

Analysis of ACAT1 gene variants in a patient with β-ketothiolase deficiency

Analysis of ACAT1 gene variants in a patient with β-ketothiolase deficiency

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 10, 2021

C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.

C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.

Journal: Orphanet journal of rare diseases
Published: December 11, 2020

Emergent treatment using glucose/insulin infusing for ketoacidosis in T2 deficiency.

Emergent treatment using glucose/insulin infusing for ketoacidosis in T2 deficiency.

Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: April 10, 2020

Beta-ketothiolase deficiency in a Malaysian infant.

Beta-ketothiolase deficiency in a Malaysian infant.

Journal: The Medical journal of Malaysia
Published: May 13, 2019

Abnormal Ketone Bodies in a 22-Month-Old Boy Presenting with Recurrent Vomiting and Metabolic Acidosis.

Abnormal Ketone Bodies in a 22-Month-Old Boy Presenting with Recurrent Vomiting and Metabolic Acidosis.

Journal: Clinical chemistry
Published: April 26, 2019
Showing 1-12 of 38

Last Updated: 06/30/2026