LRPPRC encodes leucine rich pentatricopeptide repeat containing (1,394 aa). May play a role in RNA metabolism in both nuclei and mitochondria. Highest expression in Cells EBV-transformed lymphocytes (113.8 TPM) and Brain Cerebellar Hemisphere (71.9 TPM).

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type is associated with mutations in the LRPPRC gene on chromosome 2.

The LRPPRC protein participates in Mitochondrial RNA degradation pathway.

LRPPRC is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for LRPPRC is available. Testing is considered confirmatory for diagnosis.

No approved treatments are currently available for congenital lactic acidosis, Saguenay-Lac-Saint-Jean type. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for congenital lactic acidosis, Saguenay-Lac-Saint-Jean type. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Phenotype severity distribution: 5 always present features, 4 common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for congenital lactic acidosis, Saguenay-Lac-Saint-Jean type.

3 publications have been identified in PubMed for congenital lactic acidosis, Saguenay-Lac-Saint-Jean type. Research spans Basic Science / Preclinical (67%) and Epidemiology / Natural History (33%).

Recent Publications

• Bhérer C (2025). [PMID: 40791678](https://pubmed.ncbi.nlm.nih.gov/40791678/). *medRxiv*. [Epidemiology / Natural History]

• Fois A (2025). [PMID: 40607235](https://pubmed.ncbi.nlm.nih.gov/40607235/). *J Rare Dis (Berlin)*. [Basic Science / Preclinical]

• Gélinas R (2024). [PMID: 38706791](https://pubmed.ncbi.nlm.nih.gov/38706791/). *Front Genet*. [Basic Science / Preclinical]