Objectives: Aminoacidopathies are inborn errors of metabolism (IEMs) that cause intellectual disability in children. Luckily, aminoacidopathies are potentially treatable, if diagnosed earlier in life. The focus of this study was the screening of aminoacidopathies in a cohort of patients suspected for IEMs.

Methods: Blood samples from healthy (IQ > 90; n = 391) and intellectually disabled (IQ < 70; n = 409) children (suspected for IEMs) were collected from different areas of Northern Punjab, Pakistan. An analytical HPLC assay was used for the screening of plasma amino acids.

Results: All the samples (n = 800) were analyzed on HPLC and forty-three out of 409 patient samples showed abnormal amino acid profiles mainly in the levels of glutamic acid, ornithine and methionine. Plasma concentration (Mean ± SD ng/mL) were significantly high in 40 patients for glutamic acid (patients: 165 ± 38 vs. controls: 57 ± 8, p < 0.00001) and ornithine (patients: 3177 ± 937 vs. controls: 1361 ± 91, p < 0.0001). Moreover, 3 patients showed abnormally high (53.3 ± 8.6 ng/mL) plasma levels of methionine.

Conclusion: In conclusion, biochemical analysis of samples from such patients at the metabolites level could reveal the underlying diseases which could be confirmed through advanced biochemical and genetic analyses. Thus, treatment to some of such patients could be offered. Thus burden of intellectual disability caused by such rare metabolic diseases could be reduced from the target populations.

目的：氨基酸病是先天性代谢错误 (IEM)，可导致儿童智力障碍。幸运的是，如果在生命早期得到诊断，氨基酸病是可以治疗的。本研究的重点是在一组疑似 IEM 的患者中筛查氨基酸病。

方法：从 巴基斯坦北部旁遮普省的不同地区收集健康（IQ > 90； n  = 391）和智障（IQ < 70；n = 409）儿童（疑似 IEM）的血液样本。分析型 HPLC 分析用于筛选血浆氨基酸。

结果：所有样本 ( n  = 800) 均经过 HPLC 分析，409 份患者样本中有 43 份显示异常氨基酸谱，主要表现为谷氨酸、鸟氨酸和蛋氨酸水平。40 名患者的谷氨酸（患者：165 ± 38 对比对照组：57 ± 8，p  < 0.00001）和鸟氨酸（患者：3177 ± 937 对比对照组：1361 ）的血浆浓度（平均值 ± SD ng/mL）显着升高± 91，p  < 0.0001）。此外，3 名患者的血浆蛋氨酸水平异常高（53.3 ± 8.6 ng/mL）。

结论：总之，在代谢物水平上对这些患者的样本进行生化分析可以揭示潜在疾病，这些疾病可以通过先进的生化和遗传分析来确认。因此，可以为其中一些患者提供治疗。因此，可以从目标人群中减少由此类罕见代谢疾病引起的智力障碍负担。