Organic acidurias in Egyptian children: The urge for high‐risk screening

Abstract

AbstractBackgroundOrganic acidurias are a group of inborn errors of metabolism. They present a significant diagnostic challenge and are associated with serious morbidity and mortality. 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 high‐risk screening for such disorders.MethodsOne hundred and fifty high‐risk children who 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.ResultsThirty percent (45/150) of the patients were confirmed as having an 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 group that was studied.ConclusionOrganic acid detection by gas chromatography–mass spectrometry is key to the diagnosis of many metabolic disorders. Until a national expanded newborn screening program is established, high‐risk screening is strongly encouraged for the early detection of, and proper intervention for such disorders among Egyptian children.