Improving acute care for Primary Mitochondrial Disease: Development of a publicly available clinical care pathway

Primary mitochondrial diseases (PMD) are an increasingly recognized cause of multi-system organ dysfunction. Children frequently require acute care in an inpatient setting, though many hospitals do not have access to metabolic specialists. We developed a publicly available, evidenced-based clinical pathway utilizing expert consensus guidelines to guide the care of PMD patients during an emergency department visit and/or hospitalization. Utilization of the pathway may help improve triage time, clarify therapeutic options, and help initiate disease-specific screening.

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Publication Details

Journal
Molecular Genetics and Metabolism
Published
2025-02-21
DOI
https://doi.org/10.1016/j.ymgme.2025.109058
Citations
1
Primary Topic
Mitochondrial Function and Pathology
Type
article
Field-Weighted Citation Impact
0.81
Controls
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Improving acute care for Primary Mitochondrial Disease: Development of a publicly available clinical care pathway

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article

Improving acute care for Primary Mitochondrial Disease: Development of a publicly available clinical care pathway

Brandon Ku, Rebecca D. Ganetzky, Bridget Blowey, Christopher A. Tormey, Matthew M. Demczko, Amy Goldstein, Jane Lavelle
article en
1 citations

Abstract

Primary mitochondrial diseases (PMD) are an increasingly recognized cause of multi-system organ dysfunction. Children frequently require acute care in an inpatient setting, though many hospitals do not have access to metabolic specialists. We developed a publicly available, evidenced-based clinical pathway utilizing expert consensus guidelines to guide the care of PMD patients during an emergency department visit and/or hospitalization. Utilization of the pathway may help improve triage time, clarify therapeutic options, and help initiate disease-specific screening.

Molecular Genetics and MetabolismVol. 144(4)
Children's Hospital of Philadelphia (US)
Openalex Percentile: Top 31%
Mitochondrial Function and Pathology
0.81
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