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Related Experiment Videos

Pyruvate carboxylase deficiency: a benign variant with normal development.

R N Van Coster1, P M Fernhoff, D C De Vivo

  • 1Division of Pediatric Neurology, Columbia Presbyterian Medical Center, New York, New York 10032.

Pediatric Research
|July 1, 1991
PubMed
Summary

Pyruvate carboxylase deficiency typically leads to severe outcomes. This case study presents a unique pyruvate carboxylase deficiency patient with a remarkably benign clinical course, defying typical disease progression.

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Pyruvate carboxylase deficiency (PCD) is a severe inherited metabolic disorder.
  • The neonatal (French) and infantile (North American) types of PCD are uniformly fatal or severely disabling.

Observation:

  • A 7-year-old girl presented with biochemical and metabolic features consistent with the North American phenotype of PCD.
  • Despite presenting with metabolic crises, the patient maintained preserved motor and mental abilities throughout her clinical course.

Findings:

  • Residual enzyme activity was 1.8% in cultured skin fibroblasts, with normal cross-reacting material.
  • Metabolic crises included acidosis, elevated lactate, pyruvate, alanine, beta-hydroxybutyrate, acetoacetate, lysine, and proline, with undetectable aspartate.

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Implications:

  • This case highlights an unprecedented benign clinical course in a patient with features of North American PCD.
  • The underlying mechanisms for this patient's unique resilience remain unexplained, warranting further investigation.
  • This finding may offer new insights into potential therapeutic targets or modifying factors for pyruvate carboxylase deficiency.