Title : Unexplained Tachypneoa and Severe Metabolic Acidosis in a Three-Month-Old Child: A Rare Presentation of Beta-Ketothiolose Deficiency.

Pub. Date : 2022 Feb

PMID : 35273875






1 Functional Relationships(s)
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1 Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is a rare inborn error of metabolism that is characterized by impaired metabolism of ketones and isoleucine. Ketones acetyl-CoA acyltransferase 1 Homo sapiens