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

Autor: Mehaney DA; Clinical and Chemical Pathology Department, Cairo University, Cairo, Egypt.; Gas Chromatography-Mass Spectrometry laboratory, Cairo University Children Hospital, Cairo, Egypt., Seliem ZS; Pediatrics Department, Pediatric Cardiology Division, Cairo University, Cairo, Egypt., Selim LA; Pediatrics Department, Pediatric Neurology and Metabolic Division, Cairo University, Cairo, Egypt., Khalil MS; Clinical and Chemical Pathology Department, Cairo University, Cairo, Egypt., Abou-Youssef HS; Clinical and Chemical Pathology Department, Cairo University, Cairo, Egypt., Elsayed EM; Department of Dairy Science, Cairo University, Giza, Egypt., Abdou DM; Clinical and Chemical Pathology Department, Cairo University, Cairo, Egypt., Rizzo C; Clinical Division and Research Unit of Metabolic Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dioniasi-Vici C; Clinical Division and Research Unit of Metabolic Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Abdelazim AM; Clinical and Chemical Pathology Department, Cairo University, Cairo, Egypt.; Gas Chromatography-Mass Spectrometry laboratory, Cairo University Children Hospital, Cairo, Egypt., Elkady SH; Department of General Pathology, October University for Modern Sciences and Arts, Giza, Egypt.
Jazyk: angličtina
Zdroj: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2023 Jan; Vol. 65 (1), pp. e15469.
DOI: 10.1111/ped.15469
Abstrakt: Background: Organic 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.
Methods: One 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.
Results: Thirty 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.
Conclusion: Organic 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.
(© 2023 Japan Pediatric Society.)
Databáze: MEDLINE
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