Frequency of Inborn Errors of Metabolism among Infants with Non-Apparent Causes of Failure to Thrive in Zagazig University Hospitals

Introduction: Severe liver failure and inborn metabolic abnormalities produce hyperammonemia in children. Because of the pre-analytical challenges that must be properly controlled, achieving valid plasma ammonia levels in acute instances might be difficult. Objective:The aim of the present study was to estimate the prevalence of plasma ammonia levels among high risk infants admitted to pediatric intensive care unit (PICU). Patients and Methods: A cross-sectional study was carried out at NICU in Pediatric Department at Zagazig University Children Hospital. This study involved 60 neonates and children who were subjected to full medical history, thorough clinical examination and laboratory investigations. Frequency of suspected and confirmed inborn errors of metabolism (IEMs) cases was assessed. Results: The mean age was 2.15±1.89 years and weight was 8.95±6.56, 50.0% were male, regarding mode of delivery in 66.7% was cesarean section (CS). 48.3% had consanguinity. The main complaints for patients were respiratory distress (51.7%), convulsion (33.3%) and encephalopathy (10%) and the hyperammonemia was detected in 25% of the studied group. The hyperammonemia was detected in 66.7% of the confirmed IEM cases. About 16 cases (26.7%) of the studied group, unfortunately, died while 73.3% survived. Conclusion: Hyperammonemia represented a one of the main significant cause of sick infants' admission to PICU. Hyperammonemia must be rapidly suspected in case of neurologic symptoms in pediatrics. An adequate management should start rapidly as coma duration and ammonia peak level.

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“…It is detected in 25% of the studied group. This finding was confirmed with the study of El-Desouky et al (14) .…”

Section: Discussionsupporting

confidence: 87%

“…Additionally, the present study revealed that, hyperlactatemia was detected 41.7% of the studied group. However, the study of El-Desouky et al (14) found hyperlactatemia was detected in 67.2% of the studied group.…”

Section: Discussionmentioning

confidence: 73%

Incidence of Hyperammonemia among High-Risk Infants Admitted to Pediatric Intensive Care Unit

Gaafar

Mohammed

Mokhtar

2022

The Egyptian Journal of Hospital Medicine

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“…In In the study by El-Desouky et al, [14] the frequency of inborn errors of However, the study by Shawky et al, [12] reported that Amino-acid and acyl carnitine profile (metabolic screen) by tandem mass spectrometry was abnormal in 13 patients (32.5%), while organic acids in urine showed methyl malonic acidemia in 1 patient (2.5%).…”

Section: Introductionmentioning

confidence: 99%

Tandom Mass Spectrometry in Neonates Suspected to have Inborn Errors of Metabolism

El-dine

El-Mazary

Abo-Elela

et al. 2022

Annals of Neonatology Journal

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Background: Inborn errors of metabolism (IEM) are a diverse collection of genetic abnormalities that are a significant source of illness and death in children. Objectives:To determine the prevalence of IEM in newborns with suspected IEM and to diagnosis IEM as soon as feasible to reduce morbidity and death in ill neonates.Subjects and methods: the study included 50 neonates were admitted to Minia University's Neonatal Intensive Care Unit (NICU) between January 2021 and January 2022 with sepsis-like symptoms (lethargy, hypoactivity, poor suckling, and poor crying), as well as convulsions, persistent metabolic acidosis, persistent vomiting, or a history of previous sib death from an unknown cause, or clinical deterioration in a previously healthy neonate.Result: Out of 50 neonates, eighteen patients (36%) were diagnosed as having IEM. Urea cycle defect was the commonest IEM diagnosed in 7 (14%) cases, followed by suspected organic academia in 4(8%) cases then MSUD in 2 (4%). TMS confirmed the diagnosis of IEM in 11 out of 18 patients diagnosed with IEM. The other seven cases that had IEM were diagnosed by using other clinical and laboratory investigation. 20 (40%) of the patients had a history of siblings' deaths, whereas 3 (6%) had no history of siblings' deaths (diagnosed with IEM).Conclusions: IEM is a common cause of neonatal illness in the NICU. IEM studies should be performed regularly in NICUs for babies until national newborn screening can be introduced in Egypt, and they should be done jointly rather than one by one, to maximize patient survival and decrease death and morbidity.

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Prevalence and outcome of inborn errors of metabolism among high-risk neonates: an Egyptian single-center study

Mokhtar,

Hesham,

Abdo

2024

Alexandria Journal of Pediatrics

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Background Inborn errors of metabolism (IEM) are genetic disorders caused by incompetence in enzymatic reactions of intermediary metabolism due to an insufficient amount or unstable form of the involved enzyme. Aim To assess the prevalence and outcome of IEM among high-risk neonates for early diagnosis and detection of treatable causes to minimize morbidity and mortality rate in neonates. Methods This cross-sectional study was carried out on 684 neonates at the Neonatal Intensive Care Unit in the Pediatrics Department at Zagazig University Children’s Hospital from February 2020 to February 2023. Extended metabolic screen (EMS) was done for full-term neonates and preterm of more than 32 weeks of gestation. Further investigations such as plasma ammonia, plasma lactate, urine organic acid analysis, blood gas, serum anion gap, and the blood glucose level were also measured. Results The prevalence of IEM was 4.4%. The most common presentations among the cases of IEM were not doing well, respiratory distress, encephalopathy, and convulsion. As regards provisional diagnosis, 11 cases were diagnosed as maple syrup urine disease, 5 cases with glycine encephalopathy, 5 cases with medium-chain acyl CoA dehydrogenase deficiency,4 cases with methylmalonic acidemia, 2 cases with isovaleric acidemia, 2 cases with citrullinemia type 1, and one case with propionic academia; 12 (40%) of IEM cases died. Conclusion IEM disorders are not rare diseases in high-risk neonates with attention to consanguinity, which is a common tradition in our country. The delay in diagnosis of IEM leads to high morbidity and mortality.

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Frequency of Inborn Errors of Metabolism among Infants with Non-Apparent Causes of Failure to Thrive in Zagazig University Hospitals

Cited by 3 publications

References 11 publications

Incidence of Hyperammonemia among High-Risk Infants Admitted to Pediatric Intensive Care Unit

Incidence of Hyperammonemia among High-Risk Infants Admitted to Pediatric Intensive Care Unit

Tandom Mass Spectrometry in Neonates Suspected to have Inborn Errors of Metabolism

Prevalence and outcome of inborn errors of metabolism among high-risk neonates: an Egyptian single-center study

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