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pyruvate carboxylase deficiency, infantile form - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pyruvate carboxylase deficiency, infantile form

MONDO:0018141

Also known as:pyruvate carboxylase deficiency type Apyruvate carboxylase deficiency, infantile type

Overview

Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.

ResearchLimited published research (1 article)

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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, infantile form.

2 publications have been identified in PubMed for pyruvate carboxylase deficiency, infantile form. Kisho has analyzed 1 by research 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, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:353308

GARD

Genetic and Rare Diseases Info Center

GARD:17536

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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pyruvate carboxylase deficiency, infantile form

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team