Prolonged survival in pyruvate carboxylase deficiency: Lack of correlation with enzyme activity in cultured fibroblasts

Harvey J. Stern*, Ritu Nayar, Louis Depalma, Nader Rifai

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

Objective: To report the clinical history and laboratory evaluation of a patient presenting with lactic acidosis secondary to pyruvate carboxylase deficiency. Methods and Results: Enzyme analysis of cultured skin fibroblasts revealed 2-5% of normal pyruvate carboxylase activity. Although most patients with this condition die in early infancy, this child has survived to age: 8- 1 2 years, with only occasional episodes of metabolic acidosis, usually responding rapidly to intravenous hydration and bicarbonate. Despite having a seizure disorder and moderate mental retardation, he continues to thrive and make progress in his acquisition of motor and language skills. Of the 35 patients described in the literature with pyruvate carboxylase deficiency, only two other patients have lived beyond 5 years of age. Conclusion: There does not seem to be a correlation of prolonged survival with residual pyruvate carboxylase activity on assay of cultured fibroblasts. Possible explanations for this patient's prolonged survival include tissue heterogeneity, increased residual enzyme activity in vivo, or partial stabilization of the enzyme by supplemental biotin.

Original languageEnglish (US)
Pages (from-to)85-89
Number of pages5
JournalClinical Biochemistry
Volume28
Issue number1
DOIs
StatePublished - Feb 1995

Keywords

  • enzymes
  • inborn errors
  • lactic acidosis
  • pyruvate carboxylase deficiency
  • pyruvate metabolism

ASJC Scopus subject areas

  • Clinical Biochemistry

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