Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Faculdade de Farmácia, UFRGS, Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Biológicas, Bioquímica, Faculdade de Farmácia, UFRGS, Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Farmacêuticas, Faculdade de Farmácia, UFRGS, Porto Alegre, RS, Brazil.
Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
Arch Med Res. 2018 Apr;49(3):205-212. doi: 10.1016/j.arcmed.2018.08.004. Epub 2018 Aug 16.
Inborn errors of metabolism (IEM) are diseases which can lead to accumulation of toxic metabolites in the organism.
To investigate, by selective screening, mitochondrial fatty acid oxidation defects (FAOD) and organic acidemias in Brazilian individuals with clinical suspicion of IEM.
A total of 7,268 individuals, from different regions of Brazil, had whole blood samples impregnated on filter paper which were submitted to the acylcarnitines analysis by liquid chromatography/tandem mass spectrometry (LC/MS/MS) at the Medical Genetics Service of Hospital de Clínicas de Porto Alegre, Brazil, during July 2008-July 2016.
Our results showed that 68 patients (0.93%) were diagnosed with FAOD (19 cases) and organic acidemias (49 cases). The most prevalent FAOD was multiple acyl CoA dehydrogenase deficiency (MADD), whereas glutaric type I and 3-OH-3-methylglutaric acidemias were the most frequent disorders of organic acid metabolism. Neurologic symptoms and metabolic acidosis were the most common clinical and laboratory features, whereas the average age of the patients at diagnosis was 2.3 years.
Results demonstrated a high incidence of glutaric acidemia type I and 3-OH-3- methylglutaric acidemia in Brazil and an unexpectedly low incidence of FAOD, particularly medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
先天性代谢缺陷（IEM）是一种会导致有毒代谢物在体内积聚的疾病。
通过选择性筛查，调查巴西有先天性代谢缺陷临床疑似症状的个体中线粒体脂肪酸氧化缺陷（FAOD）和有机酸血症的情况。
2008 年 7 月至 2016 年 7 月期间，巴西不同地区的 7268 名个体的全血样本被浸渍在滤纸上，随后将滤纸样本提交至巴西阿雷格里港临床医院医学遗传学服务部进行液相色谱/串联质谱（LC/MS/MS）酰基肉碱分析。
我们的结果显示，68 名患者（0.93%）被诊断为 FAOD（19 例）和有机酸血症（49 例）。最常见的 FAOD 是多种酰基辅酶 A 脱氢酶缺乏症（MADD），而戊二酸 I 型和 3-羟基-3-甲基戊二酸血症是有机酸代谢中最常见的疾病。神经症状和代谢性酸中毒是最常见的临床和实验室特征，而患者的平均诊断年龄为 2.3 岁。
结果表明巴西的戊二酸血症 I 型和 3-羟基-3-甲基戊二酸血症发病率较高，而 FAOD，特别是中链酰基辅酶 A 脱氢酶缺乏症（MCADD）的发病率出人意料地较低。
