Inborn errors of metabolism

Ayman W El-Hattab

doi:10.1016/j.clp.2015.02.010

Inborn errors of metabolism

Clin Perinatol. 2015 Jun;42(2):413-39, x. doi: 10.1016/j.clp.2015.02.010. Epub 2015 Apr 8.

Author

Ayman W El-Hattab¹

Affiliation

¹ 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.

PMID: 26042912
DOI: 10.1016/j.clp.2015.02.010

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.

Keywords: Acidosis; Fatty acid oxidation; Hyperammonemia; Hypoglycemia; Metabolic; Organic acidemia; Urea cycle.

Publication types

Review

MeSH terms

Genetic Testing / methods*
Global Health
Humans
Infant, Newborn
Metabolism, Inborn Errors* / diagnosis
Metabolism, Inborn Errors* / epidemiology
Metabolism, Inborn Errors* / genetics
Morbidity