Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase) deficiency is a genetic disorder characterized by impaired isoleucine catabolism and ketone body utilization that predisposes to episodic ketoacidosis. It results from biallelic pathogenic variants in the ACAT1 gene, encoding mitochondrial b...

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Publicat a:JIMD Rep
Autors principals: Wojcik, Monica H., Wierenga, Klaas J., Rodan, Lance H., Sahai, Inderneel, Ferdinandusse, Sacha, Genetti, Casie A., Towne, Meghan C., Peake, Roy W. A., James, Philip M., Beggs, Alan H., Brownstein, Catherine A., Berry, Gerard T., Agrawal, Pankaj B.
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5953889/
https://ncbi.nlm.nih.gov/pubmed/28726122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_45
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