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2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

  • Background: 2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2/ “beta-ketothiolase”) is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in ACAT1. Methods: We performed a systematic literature search for all available clinical descriptions of patients with MATD. Two hundred forty-four patients were identified and included in this analysis. Clinical course and biochemical data are presented and discussed. Results: For 89.6% of patients at least one acute metabolic decompensation was reported. Age at first symptoms ranged from 2 days to 8 years (median 12 months). More than 82% of patients presented in the first 2 years of life, while manifestation in the neonatal period was the exception (3.4%). 77.0% (157 of 204 patients) of patients showed normal psychomotor development without neurologic abnormalities. Conclusion: This comprehensive data analysis provides a systematic overview on all cases with MATD identified in the literature. It demonstrates that MATD is a rather benign disorder with often favourable outcome, when compared with many other organic acidurias.

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Document Type:Article
Author:Sarah C. Grünert, Jörn Oliver Sass
Parent Title (English):Orphanet Journal of Rare Diseases
Number of pages:7
Publisher:BioMed Central
Place of publication:London
Publishing Institution:Hochschule Bonn-Rhein-Sieg
Date of first publication:2020/04/28
Copyright:© The Author(s) 2020. This article is licensed under a Creative Commons Attribution 4.0 International License.
Funding:J.O. Sass gratefully acknowledges financial support by the program ‘FH Zeit für Forschung’ (project‘KETOplus’, 005–1703-0016) of the Ministry of Culture and Science of the German State of North Rhine-Westphalia.
Keyword:ACAT1; Beta-ketothiolase; Inborn error of metabolism; Isoleucine; Ketolysis; Ketone body; Metabolic acidosis; Metabolicdecompensation; Organic aciduria
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Institut für funktionale Gen-Analytik (IFGA)
Projects:KETOplus - Ketonkörper: Mehr als nur Energieträger! (DE/MKW NRW/005-1703-0016)
Dewey Decimal Classification (DDC):5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie
6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 616 Krankheiten
Entry in this database:2020/04/29
Licence (German):License LogoCreative Commons - CC BY - Namensnennung 4.0 International