European Journal of Molecular & Clinical Medicine

Abstract

Background: Inborn errors of metabolism (IEMs) make up a large group of rare
disorders caused by an inherited deficiency or absence of proteins that have
enzymatic, carrier, receptor, or structural roles. This study is aimed to early
detection, diagnosis, and intervention to improve outcome.
Patients and methods: This cross-sectional study was done in Pediatrics
Department, Zagazig University Hospitals. It included 65 cases with suspected
inborn errors of metabolism. All the studied cases were subjected to full history
taking, clinical examination and Laboratory investigations.
Results: The age of neonates, infant and children were 35 (54.6%), 22 (34.37%), 8
(10.93%) cases respectively, 34 cases were females and 30 males. The most common
complaint was poor suckling in 14 cases (21.8%) then lethargy as well as fever in 6
cases (9.37%). Disturbed consciousness and hepatosplenomegaly were present in 11
cases (17.18%). Metabolic disorders including metabolic acidosis (25%),
hypoglycemia (3.12%), raise lactate level (4.68%), hyperammonemia (14) and
presence of ketonuria in (4.68%) of cases, respectively. The different disease types
of the studied cases after routine and specific laboratory finding, our results showed
that, 18 cases Suspected IEM (not diagnosed), 11 cases Diagnosed metabolic (non
PKU), 36 cases Diagnosed Phenylketonuria (PKU).
Conclusion: Early diagnosis of inborn errors of metabolism (IEMs) during
neonatal period or infancy for starting its proper treatment will improve outcomes,
control complications of metabolic diseases and decrease the mortality rates.