Organic Acidurias in Egyptian children: The urge for high-risk screening

Abstract

Background: Organic acidurias are a group of inborn errors of metabolism with a significant diagnostic challenge and serious morbidities and mortalities. They are considered the most frequent inborn errors of metabolism among high-risk children. Gas chromatography-Mass spectrometry is a reliable diagnostic technique for organic acidurias. This hospital-based study aimed to quantify the frequency of organic acidurias among a group of high-risk Egyptian pediatric patients, and to highlight the importance of the high- risk screening for such disorders. Methods: One hundred fifty high-risk children presented to the inherited metabolic disease unit and the pediatric intensive care units of Cairo University Children Hospital were tested for urine organic acids using Gas chromatography-Mass spectrometry. Results: 45/150 (30%) patients confirmed to have altered organic acids profile. Neurological manifestations were the most common presentation. Glutaric aciduria type I and Maple syrup urine disease were the most common disorders encountered among the studied group. Conclusion: Organic acid detection by Gas chromatography-Mass spectrometry is a key to the diagnosis of many metabolic disorders. Until a national expanded newborn screening program is established, high-risk screening is highly encouraged for the early detection and proper intervention of such disorders among the Egyptian children.