Pyruvate carboxylase deficiency

Barry Wolf MD PhD (Dr. Wolf of Henry Ford Hospital has no relevant financial relationships to disclose.)
Originally released March 30, 1995; last updated April 27, 2016; expires April 27, 2019

This article includes discussion of pyruvate carboxylase deficiency, benign variant of pyruvate carboxylase deficiency, French phenotype of pyruvate carboxylase deficiency, and North American phenotype of pyruvate carboxylase deficiency. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

The author explains that a child with Type B pyruvate carboxylase deficiency exhibited infantile parkinsonism and GABAergic hypotransmission.

Key points

 

• Pyruvate carboxylase deficiency, an inherited metabolic disorder, usually presents during infancy or early childhood with metabolic acidosis and hypoglycemia.

 

• Some individuals with pyruvate carboxylase deficiency can exhibit mild symptoms, whereas others have severe symptoms; the variability in symptoms appears to be based on the nature of their enzyme defect.

 

• Although pyruvate carboxylase is a biotin-dependent enzyme, individuals with the disorder do not usually respond to biotin therapy.

 

• Pyruvate carboxylase deficiency may be treated with thiamine and increased glucose, especially when experiencing severe metabolic crises. Various other supplements and interventions are used to treat the disorder with varying success.

Historical note and terminology

Hommes and colleagues reported a patient with pyruvate carboxylase deficiency and Leigh syndrome (Hommes et al 1968). This association, however, was not confirmed by later studies.

A child with intermittent lactic acidosis, profound mental and motor retardation, hypoglycemia, hyperpyruvic acidemia, and hyperalaninemia was the first to be reported with the North American phenotype (Brunette et al 1972). In 1976, 2 siblings with neonatal congenital lactic acidosis and pyruvate carboxylase deficiency were described (Saudubray et al 1976). They were the first patients reported with the French phenotype of pyruvate carboxylase deficiency. Since then, more than 30 children with pyruvate carboxylase deficiency have been reported.

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