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[Occurrence status and treatment strategies of abnormal growth and development in children with methylmalonic
1Department of Endocrinology and Metabolism, Henan Provincial Children's Hospital/Affiliated Children's Hospital of Zhengzhou University, Zhengzhou 450052, China.
Insights
Methylmalonic acidemia (MMA) significantly impacts child growth and development, leading to neurodevelopmental delays and poor outcomes. This review explores MMA
Area of Science:
- Biochemistry
- Pediatric Endocrinology
- Metabolic Disorders
Background:
- Methylmalonic acidemia (MMA) is a common organic acid metabolism disorder.
- Growth and developmental abnormalities are significant challenges in MMA, impacting prognosis.
- Neurodevelopmental delay and impaired somatic growth are key determinants of poor long-term outcomes.
Purpose of the Study:
- To review the occurrence, mechanisms, and interventions for growth and developmental abnormalities in MMA.
- To provide a reference for optimizing clinical management and improving patient outcomes.
Main Methods:
- Literature review focusing on methylmalonic acidemia.
- Analysis of studies on growth and developmental outcomes in pediatric patients.
- Synthesis of information on etiological factors and therapeutic strategies.
Main Results:
- Growth and developmental issues are prominent in MMA patients.
- Heterogeneous clinical manifestations complicate assessment and management.
- Early identification and individualized interventions are crucial.
Conclusions:
- Addressing growth and developmental abnormalities is central to MMA management.
- Optimized patient management requires a focus on early identification, assessment, and intervention.
- Improving long-term outcomes in MMA necessitates a comprehensive approach to developmental challenges.
Abstract:
Abnormalities in growth and development in children with methylmalonic acidemia (MMA) have become a central challenge affecting prognosis. As a relatively common disorder of organic acid metabolism, MMA has a complex etiology and exhibits highly heterogeneous clinical manifestations. Among these, neurodevelopmental delay and impaired somatic growth are particularly prominent and are key determinants of poor long-term outcomes. Accordingly, early identification, refined assessment, and individualized intervention for these growth and developmental problems are focal points of current MMA clinical management. This review focuses on the occurrence status, potential mechanisms, and intervention strategies for growth and developmental abnormalities in MMA, aiming to provide a reference for optimizing patient management and improving long-term outcomes.
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