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

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. The condition is inherited as an autosomal recessive disorder. Herein, we present a child with T2 deficiency from Mah...

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Detalles Bibliográficos
Autores principales: Thadchanamoorthy, Vijayakumary, Dayasiri, Kavinda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8900828/
https://www.ncbi.nlm.nih.gov/pubmed/35273875
http://dx.doi.org/10.7759/cureus.21934

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8900828/
https://www.ncbi.nlm.nih.gov/pubmed/35273875
http://dx.doi.org/10.7759/cureus.21934

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