SELECTIVE SCREENING IN NEONATES SUSPECTED TO HAVE IEMS: A SINGLE CENTER STUDY IN UPPER EGYPT | ||||
| Al-Azhar Journal of Pediatrics | ||||
| Article 10, Volume 26, Issue 1, January 2023, Page 3245-3261 PDF (119.66 K) | ||||
| Document Type: Original Article | ||||
| DOI: 10.21608/azjp.2023.287920 | ||||
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| Abstract | ||||
| Background: Inborn errors of metabolism (IEM) are individually rare but collectively account for a significant proportion of illnesses. Newborn screening for IEM helps early diagnosis and management, causing a better outcome. However, mass newborn screening (NBS) in Egypt is currently limited to phenylketonuria (PKU) and hypothyroidism. We aimed to investigate the magnitude and pattern of IEM detectable by tandem mass spectrometry (MS/MS) among suspected neonates. Methods: This study included forty-one neonates admitted to the Neonatal Intensive Care Unit (NICU) at Sohag University Hospital between January 2017 and June 2018, where all neonates were suspected of having IEM based on the presence of sepsis-like manifestations, convulsions, altered mental status, persistent metabolic acidosis, persistent hypoglycemia, persistent vomiting, and/or history of sibling deaths. All included neonates underwent thorough history and clinical examination, routine laboratory investigations. Investigations for IEM included Tandem mass spectrometry, plasma ammonia and lactate, urinary organic acids. Brain MRI was individually performed in radiology department in our hospital. Results: 13 out of 41 cases were diagnosed to have IEM. The most common diagnosis was maple syrup urine disease in 8 patients with a ratio of 19.5%, followed by medium-chain acyl CoA dehydrogenase deficiency in 3 patients with a ratio of 7.3%. Meanwhile, one patient had short-chain acyl CoA dehydrogenase deficiency and another one patient had isovaleric acidemia with around 2.4%. | ||||
| Keywords | ||||
| Inborn errors of metabolism; newborn; early diagnosis; tandem mass spectrometry | ||||
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