Online ISSN: 2515-8260

Keywords : Inborn Errors of Metabolism


Early Detection of Inborn Errors of Metabolism among Neonates Admitted to Neonatal Intensive Care Unit

MervatAbdallahHesham, Shams Sami Abdo,Wesam A. Mokhtar

European Journal of Molecular & Clinical Medicine, 2021, Volume 8, Issue 4, Pages 2789-2798

Background:Early diagnosis and treatment are very important to reduce the rates
of morbidity and mortality related to Inborn errors of metabolism .The present
study aimedto detect the inborn errors of metabolism early among neonates.This
was a cross sectional study was carried out at neonatal intensive care unit in
pediatric department at Zagazig university children hospital. This study involved
114 neonates who were subjected to full medical history, thorough clinical
examination and laboratory investigations which included Complete blood count,
Coagulation profile ,C-reactive protein ,procalcitonin, Liver and renal function
tests , Serum levels of electrolytes, Plasma ammonia and lactate, Urine organic acid
analysis, Extended metabolic screening, Blood gas and serum anion gab and Blood
glucose level. Results:About 53.5% of the studied groups were males and 46.5%
were females. As regards mode of delivery 74.6% were by CS and 25.4% by NVD.
Also, 30.7% had positive consanguinity, 12.3% had sibling death, and 3.5% have
similar condition. History of abortion was found in 22.8% and genetic disease was
in 2.6% of the studied group. The main clinical presentations among the studied
group were RD, Encephalopathy and hypotonia. Only 6.1% of the studied group
had positive culture metabolic acidosis was detected only in 9.6% of the studied
group. About 90.4% of the studied group was alive and 9.6% were died.
Conclusion: IEM disorders are not rare disease in high-risk neonates with
attentions to consanguinity which is a common tradition in our country. The
manifestations of metabolic disorders are common, and many physicians
misdiagnose them as they are unaware about these disorders.

Detection of Inborn Errors of Metabolism among High Risk Infants Admitted to Pediatric Intensive Care Unit

Mohamed MamdouhGaafar, Ali Ahmed Mohammed,Wesam A. Mokhtar

European Journal of Molecular & Clinical Medicine, 2021, Volume 8, Issue 4, Pages 2820-2830

Inborn errors of metabolism (IEM) are a group of disorders that may be inherited or may occur
as the result of spontaneous mutation. IEM are relatively common disorders in the Middle East
and Arabic populations. This study aimed to detect of IEM among high risk infants admitted to
pediatric intensive care unit (PICU). Patients and Methods: This was a cross-sectional study was
carried out at NICU in Pediatric Department at Zagazig University Children Hospital during the
period study 2021. This study involved 60 neonates and children who were subjected to full
medical history, thorough clinical examination, and laboratory investigations:serum levels of
electrolytes, plasma ammonia, and lactate, urine organic acid analysis, extended metabolic
screening, blood gas, and serum anion gap and blood glucose level. Results:The mean age and
weight distribution among confirmed IEM cases were 1.7±0.45 and 6.65±3.45. All confirmed
IEM cases delivered by CS, had a positive consangioys parents had negative family history of
neither previous abortion nor previous genetic or metabolic diseases. Furthermore, 33.3% of
studied confirmed cases had positive family history of previous abortion. The main complain were
vomiting, encephalopathy and pallor. All cases showed positive CRP while procalcitonin was
positive in 66.7% of cases. About 66.7% of confirmed IEM cases had metabolic acidosis. The
hyperammonemia was detected in 66.7% of the confirmed IEM cases. The frequency of
Hypoglycemia was detected in 33.3% of the confirmed IEM cases. About 66.7% of confirmed
IEM cases had positive blood culture.Conclusion: Extended metabolic screen is helpful in
diagnosis of a significant group of treatable IEM. So, early detection and early intervention to the
neonates at risk of IEMs before the onset of symptoms can prevent or reduce serious neurological
and developmental squeal.