Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

pyruvate carboxylase deficiency, benign type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pyruvate carboxylase deficiency, benign type

MONDO:0018143

Also known as:pyruvate carboxylase deficiency type C

Overview

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.

ResearchLimited published research (1 article)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for pyruvate carboxylase deficiency, benign type.

1 publication has been identified in PubMed for pyruvate carboxylase deficiency, benign type. Research spans Case Report / Case Series (100%).

Recent Publications

Jasinge E (2024). [PMID: 38939194](https://pubmed.ncbi.nlm.nih.gov/38939194/). *Adv Lab Med*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:353320

GARD

Genetic and Rare Diseases Info Center

GARD:17538

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

pyruvate carboxylase deficiency, benign type

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team