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 language | English (US) |
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Pages (from-to) | 85-89 |
Number of pages | 5 |
Journal | Clinical Biochemistry |
Volume | 28 |
Issue number | 1 |
DOIs | |
State | Published - Feb 1995 |
Keywords
- enzymes
- inborn errors
- lactic acidosis
- pyruvate carboxylase deficiency
- pyruvate metabolism
ASJC Scopus subject areas
- Clinical Biochemistry