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

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

Abstract 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...

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Bibliographic Details
Main Authors: Sarah C. Grünert, Jörn Oliver Sass
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Ketolysis
Beta-ketothiolase
Organic aciduria
Isoleucine
Ketone body
Metabolic acidosis
Online Access:http://link.springer.com/article/10.1186/s13023-020-01357-0

Internet

http://link.springer.com/article/10.1186/s13023-020-01357-0

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