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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Sumario: | 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 decreased 3 hydroxybutyrate to acetoacetate are the main biochemical features of PCD. The elevated level of Citrulline, Proline, and Lysine with a short life span has been reported previously. Patients’ survival in almost all cases is below three months. Here, the authors aimed to report a girl with manifestations of Type B of PCD and longer survival (two-year and four-month-old). This patient did not have any changes in amino acid level which was a unique case of Type B of PCD. |
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