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.
Authors
- Brandon Ku (ORCID: https://orcid.org/0000-0003-4385-3786)
- Rebecca D. Ganetzky (ORCID: https://orcid.org/0000-0001-6238-8109)
- Bridget Blowey
- Christopher A. Tormey (ORCID: https://orcid.org/0000-0003-1785-2245)
- Matthew M. Demczko (ORCID: https://orcid.org/0000-0003-0232-9611)
- Amy Goldstein (ORCID: https://orcid.org/0000-0002-7675-3063)
- Jane Lavelle
Institutions
- Children's Hospital of Philadelphia (US)
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