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- Title
Identifying Metabolic Diseases That Precipitate Neonatal Seizures.
- Authors
Judy, Rebecca L.; Reynolds, Joanna L.; Jnah, Amy J.
- Abstract
Although a rare cause of neonatal seizures, inborn errors of metabolism (IEMs) remain an essential component of a comprehensive differential diagnosis for poorly controlled neonatal epilepsy. Diagnosing neonatal-onset metabolic conditions proves a difficult task for clinicians; however, routine state newborn screening panels now include many IEMs. Three in particular—pyridoxine-dependent epilepsy, maple syrup urine disease, and Zellweger spectrum disorders—are highly associated with neonatal epilepsy and neurocognitive injury yet are often misdiagnosed. As research surrounding biomarkers for these conditions is emerging and gene sequencing technologies are advancing, clinicians are beginning to better establish early identification strategies for these diseases. In this literature review, the authors aim to present clinicians with an innovative clinical guide highlighting IEMs associated with neonatal-onset seizures, with the goal of promoting quality care and safety.
- Subjects
DIAGNOSIS of epilepsy; INBORN errors of metabolism diagnosis; METABOLIC disorders; NEWBORN screening; CONTINUING education units; ZELLWEGER Syndrome; MEDICAL quality control; PATIENT safety; INBORN errors of metabolism; NEONATAL diseases; AGE factors in disease; SEIZURES (Medicine); MOLECULAR structure; OXIDOREDUCTASES; EPILEPSY; MAPLE syrup urine disease; CHILDHOOD epilepsy; DISEASE complications
- Publication
Neonatal Network, 2024, Vol 43, Issue 3, p139
- ISSN
0730-0832
- Publication type
Article
- DOI
10.1891/NN-2023-0048