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Inborn errors of metabolism (IEM) - an Indian perspective
1Department of Pediatrics, KEM Hospital, Mumbai, Maharashtra, India. nbkumta@hotmail.com.
Insights
Inborn errors of metabolism (IEM) are rare genetic disorders affecting children, often presenting in the neonatal period. This review highlights key IEMs and management strategies, particularly in developing countries.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Inborn errors of metabolism (IEM) represent a heterogeneous group of genetic disorders.
- These conditions manifest with diverse clinical symptoms, primarily affecting the pediatric population.
- Collectively, IEMs account for a significant proportion of cases in pediatric genetic and neurology clinics.
Purpose of the Study:
- To review selected inborn errors of metabolism (IEM).
- To focus on IEMs presenting in the neonatal period.
- To present data from Indian centers and emphasize management principles in developing countries.
Main Methods:
- Literature review of inborn errors of metabolism.
- Focus on neonatal-presenting IEMs.
- Inclusion of data from Indian centers.
Main Results:
- Selected IEMs were reviewed, with a focus on neonatal presentations.
- Data specific to Indian centers were analyzed.
- Management principles for IEMs in developing countries were emphasized.
Conclusions:
- Inborn errors of metabolism are a significant diagnostic challenge in pediatrics.
- Neonatal screening and timely management are crucial.
- Adapting management strategies to resource-limited settings is essential.
Abstract:
The inborn errors of metabolism (IEM) constitute a diverse heterogeneous group of disorders with protean clinical manifestations presenting mainly in the pediatric population. Though individually rare, together they constitute a significant percentage of children seen in genetic and neurology clinics. This review focuses on selected IEMs and highlights those seen in the neonatal period. Data from Indian centers are presented. It also emphasizes principles of management in these difficult disorders in the context of a developing country.