| Literature DB >> 26042912 |
Abstract
Inborn errors of metabolism (IEM) are individually rare but collectively common. Approximately 25% of IEMs can have manifestations in the neonatal period. Neonates with IEM are usually healthy at birth; however, in hours to days after birth they can develop nonspecific signs that are common to several other neonatal conditions. Therefore, maintaining a high index of suspicion is extremely important for early diagnosis and the institution of appropriate therapy, which are mandatory to prevent death and ameliorate complications from many IEMs.Entities:
Keywords: Acidosis; Fatty acid oxidation; Hyperammonemia; Hypoglycemia; Metabolic; Organic acidemia; Urea cycle
Mesh:
Year: 2015 PMID: 26042912 DOI: 10.1016/j.clp.2015.02.010
Source DB: PubMed Journal: Clin Perinatol ISSN: 0095-5108 Impact factor: 3.430