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GTR Home > Conditions/Phenotypes > Pyruvate carboxylase deficiency

Pyruvate carboxylase deficiency

Synonyms
ATAXIA WITH LACTIC ACIDOSIS II; Ataxia with lactic acidosis 2; Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency; Leigh syndrome due to pyruvate carboxylase deficiency; PC deficiency; Pyruvate Carboxylase Deficiency Disease
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)

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.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Maria Laura Duque Lasio
April N Lehman
Ayesha Ahmad
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Available tests

79 tests are in the database for this condition.

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Clinical tests (79 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

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

Molecular resources

Consumer resources

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