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[Research progress on the prognosis of patients with various types of Methylmalonic acidemia]
Shiying Ling1, Ruixue Shuai, Lianshu Han
1Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute of Pediatric Research, Shanghai 200092, China. hanlianshu@xinhuamed.com.cn.
Abstract:
Methylmalonic acidemia (MMA) is a series of rare inherited organic acid metabolic disorders with variable and nonspecific clinical manifestations, in particular neurological symptoms such as vomiting, lethargy, etc. Even with timely treatment, patients may still have various degrees of neurological complications and can even die. The prognosis is mainly related to the type of genetic variants, level of metabolites, newborn screening, onset of disease and early initiation of treatment. This article has reviewed the prognosis of patients with various types of MMA and factors that may affect it.
Insights
Methylmalonic acidemia (MMA) is a rare inherited metabolic disorder. Prognosis depends on genetic factors, metabolite levels, and early treatment initiation, despite potential neurological complications.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Context:
- Methylmalonic acidemia (MMA) encompasses rare inherited organic acid metabolic disorders.
- Clinical manifestations are variable and nonspecific, often including neurological symptoms like vomiting and lethargy.
- Neurological complications and mortality can occur even with timely treatment.
Purpose:
- To review the prognosis of patients with various types of methylmalonic acidemia.
- To identify key factors influencing patient outcomes in MMA.
Summary:
- Prognosis in MMA is multifactorial, influenced by specific genetic variants and metabolite levels.
- Newborn screening, disease onset, and prompt treatment initiation are critical for better outcomes.
- Despite treatment, neurological complications remain a significant concern for affected individuals.
Impact:
- Provides a comprehensive overview of prognostic factors in MMA.
- Highlights the importance of early diagnosis and intervention for managing this rare metabolic disorder.
- Informs clinical practice and research directions for improving patient care and outcomes.
