Inborn errors of metabolism (IEMs) are a heterogeneous group of disorders caused by single gene defects, which code for enzymes that facilitate the conversion of substrates into metabolites. Although individually rare, IEMs are collectively common and associated with significant morbidity and mortality, particularly in children. Currently, there is a great interest in IEMs since patients with certain IEMs can have a good prognosis with early diagnosis and proper management.
Recent advances in genetic analysis and computing technologies have contributed to identifying the molecular basis of an increasing number of IEMs. Genetic analysis plays an important role in the evaluation and management of individuals with IEMs. Genetic analysis can help confirm the diagnosis, but it has some limitations, such as determining the pathogenicity of novel variants, cost, and ethical issues. On the basis of genetic analysis, it is possible to predict the time of onset, course, and complications of certain IEMs. Moreover, genetic analysis is required for proper genetic counseling. Therefore, this Research Topic aims to advance our knowledge on the genetics of IEMs.
We welcome the submissions of original research, review, and case report, which address, but are not limited to, the following themes:
- Novel genetic findings in patients with IEMs. Please note that case reports must conform to journal guidelines and offer substantial novelty to the field.
- Correlation of genotype with clinical, biochemical, and radiological features of patients with IEMs.
- Functional studies of genetic variants associated with IEMs.
- Innovative methods in genetic analysis of IEMs.
- Genetics & newborn screening of IEMs – Advances and future directions.
- Outcomes of treatment in patients with IEMs based on combined genotype and phenotype data.
- Gene therapy for IEMs.
- Challenges to genetic analysis of IEMs, such as the clinical significance of novel variants, cost, availability, and ethical issues.
- Offbeat scenarios – prenatal presentations, dual disorders, missed diagnosis, and retrospective diagnosis via carrier testing in parents.
Inborn errors of metabolism (IEMs) are a heterogeneous group of disorders caused by single gene defects, which code for enzymes that facilitate the conversion of substrates into metabolites. Although individually rare, IEMs are collectively common and associated with significant morbidity and mortality, particularly in children. Currently, there is a great interest in IEMs since patients with certain IEMs can have a good prognosis with early diagnosis and proper management.
Recent advances in genetic analysis and computing technologies have contributed to identifying the molecular basis of an increasing number of IEMs. Genetic analysis plays an important role in the evaluation and management of individuals with IEMs. Genetic analysis can help confirm the diagnosis, but it has some limitations, such as determining the pathogenicity of novel variants, cost, and ethical issues. On the basis of genetic analysis, it is possible to predict the time of onset, course, and complications of certain IEMs. Moreover, genetic analysis is required for proper genetic counseling. Therefore, this Research Topic aims to advance our knowledge on the genetics of IEMs.
We welcome the submissions of original research, review, and case report, which address, but are not limited to, the following themes:
- Novel genetic findings in patients with IEMs. Please note that case reports must conform to journal guidelines and offer substantial novelty to the field.
- Correlation of genotype with clinical, biochemical, and radiological features of patients with IEMs.
- Functional studies of genetic variants associated with IEMs.
- Innovative methods in genetic analysis of IEMs.
- Genetics & newborn screening of IEMs – Advances and future directions.
- Outcomes of treatment in patients with IEMs based on combined genotype and phenotype data.
- Gene therapy for IEMs.
- Challenges to genetic analysis of IEMs, such as the clinical significance of novel variants, cost, availability, and ethical issues.
- Offbeat scenarios – prenatal presentations, dual disorders, missed diagnosis, and retrospective diagnosis via carrier testing in parents.