ContentsSynopsisCodesBest TestsReferencesView all Images (3)
Pyruvate carboxylase deficiency
Other Resources UpToDate PubMed

Pyruvate carboxylase deficiency

Print Images (3)
Contributors: Benjamin L. Mazer MD, MBA
Other Resources UpToDate PubMed


Pyruvate carboxylase deficiency is a very rare autosomal recessive disorder of metabolism. This disorder is due to a mutation at chromosome 11q13. Pyruvate carboxylase converts pyruvate to oxaloacetate, one of the key substrates of the citric acid cycle. Absence of this substrate significantly impairs cellular energy metabolism.

Patients with pyruvate carboxylase deficiency develop elevated serum lactate and ammonia as newborns or infants. This metabolic acidosis may lead to altered mental status and seizures. Patients go on to show delays in development and growth. Neurologic abnormalities, such as hypotonia, ataxia, and paralysis, also develop. Hypoglycemia is also characteristic of the disease.

Supplementation with biotin (a co-enzyme to pyruvate carboxylase) and thiamine (a stimulator of alternative metabolic pathways) is the primary treatment of pyruvate carboxylase deficiency. Despite treatment-improved metabolic acidosis, neurologic dysfunction remains progressive.

For more information, see OMIM.


E74.4 – Disorders of pyruvate metabolism and gluconeogenesis

87694001 – Pyruvate carboxylase deficiency

Best Tests

Subscription Required


Subscription Required

Last Updated: 03/29/2017
Copyright © 2019 VisualDx®. All rights reserved.
Pyruvate carboxylase deficiency
Print 3 Images
View all Images (3)
(with subscription)
Pyruvate carboxylase deficiency (Type A) : Abdominal pain, Seizures, Vomiting, Failure to thrive, Lactic acidosis, Metabolic acidosis, Nystagmus
Copyright © 2019 VisualDx®. All rights reserved.