Frequency of Inborn Errors of Metabolism in Patients Presented by Picture Like Encephalopathy

Abstract

I nborn errors of metabolism (IEMs) individually are rare but collectively are common. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. The aim of the study is to estimate the incidence of inborn error of metabolism in patients presented by acute encephalopathy like picture. Our study was conducted on thirty patients having symptoms suggestive of inborn errors of metabolism according to criteria suggested by Weiner et al.,2006 .This study was carried out at ER in Ghamra Military Hospital, during the period from November ,2011 to December, 2012 The study included 30 children , 18 males and 12 females, The patients ranged from 1 month to 5 years . Parental consanguinity was recorded in 19 patients while family history of similar condition in five patients. All patients were subjected to: full history taking, thorough clinical examination and laboratory investigation including: Serum ammonia, serum lactate, arterial blood gases, cerebrospinal fluid ,tandem mass spectroscopy ,organic acid of urine, kidney functions , liver functions, random blood glucose, complete blood picture, CT and MRI.