A case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.
Pyruvate carboxylase deficiency (PCD) is a rare autosomal recessive defect in a biotin-containing enzyme, Pyruvate carboxylase, which is considered as an enzyme of TCA-cycle regulation, gluconeogenesis, lipogenesis, and biosynthesis of neurotransmitters. Increased lactate to pyruvate ratio and decre...
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| Autores principales: | , , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Tehran University of Medical Sciences
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/3f37d69eae9943418301184ba3607a54 |
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