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 syste...

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Detalles Bibliográficos
Autores principales: Grünert, Sarah C., Sass, Jörn Oliver
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187484/
https://www.ncbi.nlm.nih.gov/pubmed/32345314
http://dx.doi.org/10.1186/s13023-020-01357-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187484/
https://www.ncbi.nlm.nih.gov/pubmed/32345314
http://dx.doi.org/10.1186/s13023-020-01357-0

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