pyruvate carboxylase deficiency disease
Findings
No curated finding names pyruvate carboxylase deficiency disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
Definition from the Mondo Disease Ontology (MONDO:0009949), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
73 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 17 of 17 reported patients
- HypotoniaHPOHP:0001252
- 17 of 17 reported patients
- Occasional (5% to 29% of cases)
- Lactic acidosisHPOHP:0003128
- 17 of 17 reported patients
- Very frequent (80% to 99% of cases)
- Elevated lactate:pyruvate ratioHPOHP:0032653
- Very frequent (80% to 99% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- Very frequent (80% to 99% of cases)
- Abnormal CSF pyruvate family amino acid concentrationHPOHP:0500231
- Frequent (30% to 79% of cases)
Show the remaining 61
- HyperalaninemiaHPOHP:0003348
- Frequent (30% to 79% of cases)
- HyperammonemiaHPOHP:0001987
- Frequent (30% to 79% of cases)
- HyperglutamatemiaHPOHP:0500149
- Frequent (30% to 79% of cases)
- HyperketonemiaHPOHP:0410175
- Frequent (30% to 79% of cases)
- HyperlysinemiaHPOHP:0002161
- Frequent (30% to 79% of cases)
- HyperprolinemiaHPOHP:0008358
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PCHGNC:8636
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: pyruvate carboxylase deficiency disease
- Also called
- ataxia with lactic acidosis type 2ataxia with lactic acidosis type IILeigh necrotizing encephalopathy due to pyruvate carboxylase deficiencyLeigh syndrome due to PC deficiencyLeigh syndrome due to pyruvate carboxylase deficiency