Molecular Characterization of Pyruvate Carboxylase Deficiency in Two Consanguineous Families

@article{Wexler1998MolecularCO,
  title={Molecular Characterization of Pyruvate Carboxylase Deficiency in Two Consanguineous Families},
  author={Isaiah D. Wexler and Douglas S. Kerr and Yuefen Du and Marie M. Kaung and William Stephenson and Marilyn M. Lusk and Rebecca S. Wappner and J. J. Higgins},
  journal={Pediatric Research},
  year={1998},
  volume={43},
  pages={579-584}
}
Pyruvate carboxylase (PC) is a biotinylated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate. Children with inborn errors of PC metabolism have lactic acidosis, hypoglycemia, and mental retardation. The variable severity of the clinical phenotype is dependent on both genetic and environmental factors. Two consanguineous families with moderate forms of PC deficiency were characterized at the biochemical and molecular levels. In both families, the probands were found… CONTINUE READING

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