Altimimi Hassan A, Aljawadi Hussein F, Ali Esraa A
Pediatrics Department, Misan Hospital for Child and Maternity, Misan, Iraq.
Pediatrics Department, College of Medicine, Misan University, Misan, Iraq.
Oman Med J. 2019 Jul;34(4):297-301. doi: 10.5001/omj.2019.59.
We sought to determine the prevalence of inborn errors of metabolism (IEM) in children with unexplained developmental delay and their types.
We conducted a cross-sectional study in Misan, Iraq, over a period of one year. A total of 112 infants with unexplained developmental delay were included in the study, and the required information was taken from their parents by direct interview. Tandem mass spectrometry (MS/MS) was done in collaboration with MedLabs' Referral Laboratory in Amman, Jordan.
Twenty (17.9%) cases had abnormal MS/MS. Disorders of amino acid metabolism represented the majority of IEM (10 cases) in which phenylketonuria and maple syrup urine disease were the most common (found in five cases each). Organic and fatty acid metabolisms were found in five and two cases, respectively. Most cases of IEM had a positive family history and consanguinity, however, family history was the only significant factor ( < 0.001).
A high rate of IEM was detected in children with unexplained developmental delay in Misan. A high clinical suspicion with positive family history and consanguinity supported by the MS/MS results played an essential role in the diagnosis. However, implementation of newborn screening is essential for early diagnosis and to determine appropriate therapy in newborns with IEM in Iraq generally and in Misan in particular.
我们试图确定不明原因发育迟缓儿童中先天性代谢缺陷（IEM）的患病率及其类型。
我们在伊拉克米桑进行了为期一年的横断面研究。共有112名不明原因发育迟缓的婴儿纳入研究，所需信息通过直接访谈从其父母处获取。串联质谱（MS/MS）检测与约旦安曼的MedLabs转诊实验室合作完成。
20例（17.9%）MS/MS检测结果异常。氨基酸代谢紊乱占IEM的大多数（10例），其中苯丙酮尿症和枫糖尿症最为常见（各5例）。有机酸和脂肪酸代谢紊乱分别有5例和2例。大多数IEM病例有阳性家族史和近亲结婚情况，然而，家族史是唯一的显著因素（<0.001）。
在米桑不明原因发育迟缓儿童中检测到较高的IEM发生率。MS/MS结果支持的对有阳性家族史和近亲结婚情况的高度临床怀疑在诊断中起了重要作用。然而，实施新生儿筛查对于伊拉克尤其是米桑地区IEM新生儿的早期诊断和确定适当治疗至关重要。
