ReviewIndian journal of pediatrics2021
Inborn Errors of Metabolism-Approach to Diagnosis and Management in Neonates.
Review in Indian journal of pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled it
- Pushing the Boundaries of Biomarker Discovery in Phenylketonuria: Metabolomic Profiling Reveals Novel Biomarkers and Their Associations with Phenylalanine.Molecules (Basel, Switzerland) · 2026Article
- A novel urine collection device for accurate urinary measurements in neonates and pre-continent infants.Pediatric research · 2026Article
- Integrative bioinformatics analysis identifies APOE as a candidate link between lipid dysregulation and macrophage activation in inborn errors of metabolism.Frontiers in pharmacology · 2026Article
- Training Primary Healthcare Professionals for Expanded Newborn Screening with Tandem Mass Spectrometry: Challenges for Community Genetics in Brazil.International journal of neonatal screening · 2025Article
- Review
- The Efficacy and Outcomes of Renal Replacement Therapy in Pediatric Metabolic Disorders.Journal of clinical medicine · 2024Article
- The landscape of CRISPR/Cas9 for inborn errors of metabolism.Molecular genetics and metabolism · 2023Review
- Newer Perspective in Neonatology-Need for Updating.Indian journal of pediatrics · 2021Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of metabolism (IEM), otherwise known as inherited metabolic disorders (IMD), are individually rare, but collectively common. IEM pose a challenge to diagnosis, as neonates present with nonspecific signs. A high index of suspicion is essential. Knowledge on clinical presentation may be life saving, especially for conditions that are treatable. It is important for the first-line physicians not to miss treatable disorders. Simplified classification and algorithmic approach help in the clinical setting. This article describes the classification of IEM into three groups, namely group 1 - intoxication disorders, group 2 - energy defects, and group 3 - storage disorders. Clinical presentations of IEM in the neonatal period, a quick guide to the diagnosis with the help of baseline investigations (glucose, arterial blood gas, lactate, ammonia, and ketone abbreviated as GALAK), a tabulated guide to the diagnosis with the help of tandem mass spectrometry (TMS), and gas chromatography and mass spectrometry (GCMS) are summarized in this article. Four principles of therapy that include substrate reduction, provision of deficient metabolites, disposal of toxic metabolites, and increase in enzyme activity are elaborated with particular stress to the diet management. In addition, a list of medications used in the treatment of different disorders classified according to Society for the Study of IEM (SSIEM) is presented.
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Registered trials
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