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Pyruvate carboxylase deficiency, benign type
Disease definition
Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.
ORPHA:353320
Classification level: Subtype of disorderSummary
Epidemiology
Benign PC deficiency is a very rare form of PC deficiency and has been described in fewer than 10 patients to date. No ethnic predilection has been reported.
Clinical description
Onset typically occurs during the first year of life with episodic metabolic acidosis associated with lactic acidemia and occasionally with ketoacidosis during metabolic stress. Neurological development is normal or mildly impaired. Other signs include dystonia, episodic ataxia, dysarthria, transitory hemiparesis and seizures.
Etiology
Type C PC deficiency is caused by mutations in the PC gene (11q13.4-q13.5).
Diagnostic methods
Blood lactic acid levels are usually between 2 and 5 mmol/l. The abnormal biochemical parameters found in severe forms of PC deficiency are absent in patients with Type C, although lysine, proline and alanine may be elevated, while citrulline is normal. PC enzyme activity assay demonstrating deficiency of the PC enzyme in fibroblasts is also diagnostic, along with mutations in the PC gene identified via molecular genetic testing.
Genetic counseling
Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner.
A summary on this disease is available in Deutsch (2013) Español (2013) Français (2013) Italiano (2013) Nederlands (2013) Polski (2013, pdf) Russian (2013, pdf) Polski (2013)
Detailed information
Disease review articles
- Clinical genetics review
- English (2018) - GeneReviews
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produced/endorsed by FSMR(s)Additional information