title: Inborn errors of metabolism.
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.
authors.affiliation: Division of Clinical Genetics and Metabolic Disorders, Pediatric Department, Tawam Hospital, P.O. Box 15258, Al-Ain, United Arab Emirates. Electronic address: elhattabaw@yahoo.com.
authors.forename: Ayman W
authors.initials: AW
authors.lastname: El-Hattab
mesh_terms: D005820:Genetic Testing / Q000379:methods*; D014943:Global Health; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D009017:Morbidity
keywords: Acidosis; Fatty acid oxidation; Hyperammonemia; Hypoglycemia; Metabolic; Organic acidemia; Urea cycle