Evaluation of Metabolic Disorders in Pediatric Department at Zagazig University Hospital.

Background: The inborn errors of Metabolism (IEM) are significantly interrelated with genetic abnormalities from carrier parents to their children. Early diagnosis, genetic analysis of newborns, screening of future parents and nutritional treatment may help in reducing the chance to develop clinical symptoms of IEM. The present study was aimed to evaluate the early detection, diagnosis, and intervention to improve outcome and emphasizing the importance of expanded early neonatal screening. Methods: This cross-sectional study was included 65 cases with suspected IEM and done in Pediatrics Department, Zagazig University Hospitals. This study included 65 cases who were classified into 3 groups : group diagnosed with phenylketonuria diagnosed by neonatal screening program, group diagnosed with metabolic diseases other than PKU, group suspected not diagnosed either died or lost follow up. All the studied cases were subjected to full history, clinical examination and Laboratory investigations include routine investigations and specific metabolic screen in the blood. Results: In our study cases in PKU group were almost normal while the most common manifestation at the time of presentation in diagnosed non PKU group was sepsis-like manifestations (poor suckling) as well as disturbed conscious level each found in 5 cases (45.45%) followed by hepatosplenomegaly as well as delayed motor milestones in 4 cases (36.36%). Conclusions: Inborn errors of metabolism (IEMs) are rare diseases worldwide and usually presented with poor suckling and lethargyand diagnosed during infancy period. Early diagnosis of IEMs with its proper treatment improve outcomes. [ABSTRACT FROM AUTHOR]