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Published on: November 20, 2015
Catastrophic metabolic encephalopathies in the newborn period. Evaluation and management
1Department of Pediatrics, University of Colorado School of Medicine, Denver, USA.
Insights
Newborns with neurologic symptoms like seizures may have rare inborn errors of metabolism. Early diagnosis and treatment of these metabolic encephalopathies are crucial to prevent severe outcomes.
Area of Science:
- Biochemistry
- Pediatric Neurology
- Genetics
Background:
- Inborn errors of metabolism (IEMs) are a significant cause of neurologic symptoms in newborns, including seizures and lethargy.
- While individually rare, IEMs collectively affect over 1 in 1000 infants, presenting a considerable public health challenge.
- Symptoms often mimic sepsis or asphyxia, leading to delayed diagnosis and potentially irreversible neurologic damage or death.
Purpose of the Study:
- To outline key clinical principles for diagnosing metabolic encephalopathies in neonates.
- To describe the common features of various inborn errors of metabolism presenting in the newborn period.
- To emphasize the importance of early diagnosis and management for improving outcomes and genetic counseling.
Main Methods:
- Review of clinical presentations of IEMs in neonates.
- Application of fundamental clinical principles for diagnosis.
- Utilization of specific laboratory tests for identification.
Main Results:
- Most metabolic encephalopathies can be diagnosed using basic clinical approaches and laboratory investigations.
- Early identification allows for timely intervention, potentially preventing severe morbidity.
- Diagnosis informs parents about recurrence risks for future children.
Conclusions:
- Metabolic encephalopathies are an important, treatable cause of neonatal neurologic dysfunction.
- A systematic approach combining clinical assessment and laboratory testing is effective for diagnosis.
- Prompt diagnosis and management of IEMs are vital for neonatal neuroprotection and family planning.
Abstract:
The newborn who presents with neurologic symptoms such as seizures or lethargy due to inborn error of metabolism is an important problem. Although each inborn error that presents in this manner is rare, these conditions are not rare as a group, and more than one in 1000 babies is affected with one of the more than 100 different inborn errors that are now known. Many of these conditions present with much the same features seen in sepsis or asphyxia and, when untreated, can lead rapidly to death or permanent neurologic damage. Early diagnosis and management may prevent some or all of this morbidity, and also permits the parents to be informed about the chances of having other affected children. Despite the large number and complexity, most metabolic encephalopathies can be diagnosed by applying a few simple clinical principles and laboratory tests. These principles, and the typical features of some inborn errors that present in the neonate, are detailed in this article.
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