Inborn errors of metabolism presenting as neonatal encephalopathy: practical tips for clinicians.
Inborn errors of metabolism constitute an important cause of neurological disease in the neonatal period and can present clinically as encephalopathy. Although it is relatively rare, it is important to have a high index of suspicion. Appropriate investigations and a step-wise approach to diagnosis allow for early institution of treatment and can prevent significant morbidity and mortality. The aim of this article is to give a brief outline of the various inborn errors of metabolism to consider in neonatal encephalopathy and to provide a framework for investigation and diagnosis.
Tan
Ee Shien
ES
Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899. Tan.Ee.Shien@kkh.com.sg
D001928:Brain Diseases, Metabolic / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis