Meiouet Faïza, El Kabbaj Sâad, Abilkassem Rachid, Boemer François
Laboratoire de Recherche et d'Analyses Médicales de la Gendarmerie Royale, Avenue Ibn Sina, Agdal, Rabat 10100, Morocco.
Service de Pédiatrie, Hôpital Militaire d'Instruction Mohamed V, Rabat 10100, Morocco.
Pediatr Rep. 2023 Mar 10;15(1):227-236. doi: 10.3390/pediatric15010018.
Expanded newborn screening using tandem mass spectrometry (MS/MS) for inborn errors of metabolism (IEM), such as organic acidemias (OAs), fatty acid oxidation disorders (FAODs), and amino acid disorders (AAs), is increasingly popular but has not yet been introduced in Africa. With this study, we aim to establish the disease spectrum and frequency of inborn errors of OAs, FAODs, and AAs in Morocco.
Selective screening was performed among infants and children suspected to be affected with IEM between 2016 and 2021. Amino acids and acylcarnitines spotted on filter paper were analyzed using MS/MS.
Out of 1178 patients with a clinical suspicion, 137 (11.62%) were diagnosed with IEM, of which 121 (88.3%) patients suffered from amino acids disorders, 11 (8%) were affected by FAOD, and 5 (3.7%) by an OA.
This study shows that various types of IEM are also present in Morocco. Furthermore, MS/MS is an indispensable tool for early diagnosis and management of this group of disorders.
使用串联质谱（MS/MS）对诸如有机酸血症（OAs）、脂肪酸氧化障碍（FAODs）和氨基酸障碍（AAs）等先天性代谢缺陷（IEM）进行扩大新生儿筛查越来越普遍，但尚未在非洲开展。通过本研究，我们旨在确定摩洛哥OAs、FAODs和AAs先天性代谢缺陷的疾病谱和发病率。
在2016年至2021年间，对疑似患有IEM的婴幼儿进行选择性筛查。使用MS/MS分析滤纸上斑点的氨基酸和酰基肉碱。
在1178例临床疑似患者中，137例（1
