Pyruvate carboxylase deficiency--insights from liver transplantation.

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.

• Authors: William L Nyhan, 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
• Journal: Molecular genetics and metabolism (Mol Genet Metab) 2002 Sep-Oct Vol. 77 Issue 1-2 Pg. 143-9 ISSN: 1096-7192 [Print] United States
• PMID: 12359142 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Glutamine
• Lactic Acid
• Glucose

Topics

• Acidosis, Renal Tubular (etiology)
• Citrullinemia (etiology)
• Glucose (administration & dosage)
• Glutamine (cerebrospinal fluid)
• Humans
• Hyperammonemia (etiology)
• Infant
• Lactic Acid (blood)
• Liver Transplantation
• Male
• Pyruvate Carboxylase Deficiency Disease (complications, drug therapy, metabolism, surgery)