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.

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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
Controls
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article

Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years—Admissions and complications

Kimberly A. Chapman, Danielle Starin, Erin MacLeod, Nicholas Ah. Mew et al.
1 citations
Molecular Genetics and Metabolism
Metabolism and Genetic Disorders
1.32
article

Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years—Admissions and complications

Kimberly A. Chapman, Danielle Starin, Erin MacLeod, Nicholas Ah. Mew, Nina Mickle
article en
1 citations

Abstract

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.

Molecular Genetics and MetabolismVol. 146(4)
Children's National (US)
Openalex Percentile: Top 14%
Metabolism and Genetic Disorders
1.32
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