Work

Animal models of methylmalonic acidemia: insights and challenges

Year: 2025

Type: article

Abstract: Methylmalonic acidemia (MMA) is a rare genetic disorder caused by disruptions in the metabolism of methylmalonic acid, resulting in severe neurological and systemic complications. Animal models have become indispensable in advancing our understanding of MMA pathogenesis, evaluating treatment options, and exploring new therapies. This review highlights recent advancements in MMA research, focusing on the characteristics, advantages, and limitations of various genetically engineered animal models, including murine and zebrafish models. By integrating insights from these models, this work aims to provide a foundation for future clinical applications and therapeutic innovations.Clinical trial number Not applicable.

Source: Orphanet Journal of Rare Diseases

DOI: 10.1186/s13023-025-04101-8

Authors: Shan Shan, Min Liu, Yue Ma, Meng Sun, Yue Wang, Hui Zou

Institutions: Jinan Maternity And Care Hospital, Shandong First Medical University

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,990