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Inborn error of pyruvate metabolism

disorder
SNOMED 53210006CUI C0034350

Overview

Inborn error of pyruvate metabolism is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Pyruvate Metabolism, Inborn Errors" from the MEDLINE/PubMed database.

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Prevalence of pyruvate kinase deficiency: A systematic literature review.
[object Object], [object Object], [object Object] et al. · Eur J Haematol · 2020
PMID: 32279356Meta-AnalysisFull text (PMC)
Mitapivat improves ineffective erythropoiesis and iron overload in adult patients with pyruvate kinase deficiency.
[object Object], [object Object], [object Object] et al. · Blood Adv · 2024
PMID: 38330179RCTFull text (PMC)
Hereditary disorders of ineffective erythropoiesis.
[object Object], [object Object] · Blood Cells Mol Dis · 2025
PMID: 39938185ReviewFull text (PMC)
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.
[object Object], [object Object], [object Object] et al. · Lancet Haematol · 2024
PMID: 38330977Review
Mitapivat: A Review in Pyruvate Kinase Deficiency in Adults.
[object Object], [object Object] · Drugs · 2023
PMID: 37991635Review
Updates and advances in pyruvate kinase deficiency.
[object Object], [object Object], [object Object] et al. · Trends Mol Med · 2023
PMID: 36935283ReviewFull text (PMC)
Diagnosis, monitoring, and management of pyruvate kinase deficiency in children.
[object Object], [object Object], [object Object] · Pediatr Blood Cancer · 2022
PMID: 35452178Review
Laboratory approach to investigation of anemia with a focus on pyruvate kinase deficiency.
[object Object], [object Object] · Int J Lab Hematol · 2020
PMID: 32543069Review
Laboratory Approach to Hemolytic Anemia.
[object Object], [object Object], [object Object] · Indian J Pediatr · 2020
PMID: 31823208Review

Quick Facts

SNOMED CT
53210006
UMLS CUI
C0034350
Fully Specified Name
Inborn error of pyruvate metabolism (disorder)
Specialists
0
Diagnostic Biomarkers
0
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.