A Rare Case of Type B Neonatal Pyruvate Carboxylase Enzyme Deficiency Presenting With Refractory Lactic Acidosis in the Early Neonatal Period

Pyruvate carboxylase (PC) enzyme deficiency is a rare genetic disorder inherited in an autosomal recessive (AR) manner. PC, a mitochondrial enzyme, converts pyruvate to oxaloacetate (OAA), which enters the tricarboxylic acid (TCA) cycle. Based on the tissue type, intermediate metabolites of the TCA...

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Detalles Bibliográficos
Autores principales: Sharif, Saima, Velumula, Pradeep Kumar, Boddu, Praveen kumar, Altinok, Deniz, Fernandes, Nithi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632676/
https://www.ncbi.nlm.nih.gov/pubmed/36348915
http://dx.doi.org/10.7759/cureus.29903

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632676/
https://www.ncbi.nlm.nih.gov/pubmed/36348915
http://dx.doi.org/10.7759/cureus.29903

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