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Start free with EleplanPyruvate carboxylase deficiency
ORPHA:3008Disease
Also called Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II · Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency · Leigh syndrome due to PC deficiency · Leigh syndrome due to pyruvate carboxylase deficiency
What it is
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.
Key facts
- Prevalence
- 1-9 / 1 000 000 (at birth, Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive, Not applicable
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
3Common30–79%
26- Abnormal CSF pyruvate family amino acid concentration
- Decreased CSF glutamine concentration
- Elevated brain choline level by MRS
- Elevated brain lactate level by MRS
- Elevated plasma citrulline
- Failure to thrive
- Growth delay
- Hyperalaninemia
- Hyperammonemia
- Hyperglutamatemia
- Hyperketonemia
- Hyperlysinemia
- Hyperprolinemia
- Hypertaurinemia
- Hypoglutaminemia
- Increased caudate lactate level
- Increased circulating pyruvate concentration
- Increased CSF alanine concentration
- Increased CSF citrulline concentration
- Increased CSF glutamate concentration
- Increased CSF lactate
- Lacticaciduria
- Metabolic acidosis
- Neurodevelopmental delay
- Reduced brain N-acetyl aspartate level by MRS
- Seizure
Sometimes5–29%
39- Abnormal pattern of respiration
- Abnormal pyramidal sign
- Abnormal temper tantrums
- Agenesis of corpus callosum
- Anorexia
- Apathy
- Ataxia
- Basal ganglia gliosis
and 31 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes reported in subtypes
Orphanet records this gene on 3 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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