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

Abstract Background Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency (OMIM #203750, *607809) is an autosomal recessive disorder of isoleucine catabolism and ketone body utilization. It is caused by mutations in the ACAT1 gene and characterized by intermittent keto...

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Bibliographic Details
Main Authors: Imad M. Dweikat, Hamza A. Abdul-Hafez, Alaa Zayed, Moien Kanaan, Hanin Kasem, Rami Bzour
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Medical Genomics
Subjects:
T2
Beta-ketothiolase
Ketoacidosis
2-methyl-3-hydroxybutyric acid
ACAT1 gene
Online Access:https://doi.org/10.1186/s12920-025-02175-8
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https://doi.org/10.1186/s12920-025-02175-8

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