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Case Reports
. 2002 Sep-Oct;77(1-2):143-9.
doi: 10.1016/s1096-7192(02)00123-3.

Pyruvate carboxylase deficiency--insights from liver transplantation

William L Nyhan  1 , Ajai Khanna, Bruce A Barshop, Robert K Naviaux, Andrew F Precht, Joel E Lavine, Marquis A Hart, Bryan E Hainline, Rebecca S Wappner, Sharon Nichols, Richard H Haas
Affiliations
Case Reports

Pyruvate carboxylase deficiency--insights from liver transplantation

William L Nyhan et al. Mol Genet Metab. 2002 Sep-Oct.

Erratum in

  • Mol Genet Metab. 2006 Mar;87(3):278

Abstract

Pyruvate carboxylase deficiency, complex form, presents in early infancy with lethal metabolic acidosis, resulting from ketoacidosis and lactic acidemia. Renal tubular acidosis, hyperammonemia, and citrullinemia complete the picture. In an infant with this disease, large amounts of glucose ameliorated the ketoacidosis, but worsened the lactic acidosis. Orthotopic hepatic transplantation completely reversed the ketoacidosis and the renal tubular abnormality and ameliorated the lactic acidemia. Concentrations of glutamine in cerebrospinal fluid were low and did not improve with liver transplantation.

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