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GTR Home > Conditions/Phenotypes > Pyruvate carboxylase deficiency

Summary

Excerpted from the GeneReview: Pyruvate Carboxylase Deficiency
Pyruvate carboxylase (PC) deficiency is characterized in most affected individuals by failure to gain weight and/or linear growth failure, developmental delay, epilepsy, and metabolic acidosis. Three clinical phenotypes are recognized. Type A (infantile form) is characterized by infantile onset of metabolic and lactic acidosis, delayed motor development, intellectual disability, poor linear growth and/or weight gain, and neurologic findings (apathy, hypotonia, pyramidal and extrapyramidal signs, ataxia, and seizures). Brain anomalies can be noted. Most affected children die in infancy or early childhood. Type B (severe neonatal form) is characterized by neonatal or infantile onset of hypothermia, respiratory distress/failure, vomiting, severe lactic acidosis, hyperammonemia, and often hypoglycemia. Neurologic findings include brain abnormalities, lethargy, hypotonia, and pyramidal and extrapyramidal signs. Death typically occurs by age eight months. Type C (intermittent/attenuated form) is characterized by relatively normal or mildly delayed neurologic development, motor and/or gait abnormalities, (rarely) seizures, episodic movement disorders, and metabolic acidosis. Life span is unknown but survival into adulthood has been reported.

Available tests

80 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: PCB, PC
    Summary: pyruvate carboxylase

Clinical features

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Practice guidelines

  • ACMG, ACT Sheet, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, [Elevated Citrulline], Amino Acidemia/Urea Cycle Disorder, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Elevated Citrulline: Amino Acidemia Algorithm, 2022

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