Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years—Admissions and complications
Individuals with PA and MMA are frequently hospitalized (accounting for 5-6 % of their first three years of life) which likely impacts development and overall health. Data such as those presented in this study are crucial for improving our understanding of disease progression in these rare conditions. This information can help guide future research, support the development of the clinical guidelines, and provide healthcare providers with valuable insights to better educate families on risks and expectations. Using these data, we have altered our counseling at the time of diagnosis to better prepare families for their child's course.
Authors
- Kimberly A. Chapman (ORCID: https://orcid.org/0000-0002-5471-9083)
- Danielle Starin
- Erin MacLeod
- Nicholas Ah. Mew
- Nina Mickle
Institutions
- Children's National (US)
Publication Details
- Journal
- Molecular Genetics and Metabolism
- Published
- 2025-11-09
- DOI
- https://doi.org/10.1016/j.ymgme.2025.109289
- Citations
- 1
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.32