• Clinics in perinatology · Jun 2015

    Review

    Inborn errors of metabolism.

    • Ayman W El-Hattab.
    • 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.
    • Clin Perinatol. 2015 Jun 1; 42 (2): 413-39, x.

    AbstractInborn 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. Copyright © 2015 Elsevier Inc. All rights reserved.

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