Rhead William J
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):370-7. doi: 10.1007/s10545-006-0292-1.
As judged by tandem mass spectrometry blood spot screening, the incidence of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is 1:14 600 (CI 95%: 1:13 500-1:15 900) in almost 8.2 million newborns worldwide and is 2- to-3 fold higher than that identified in the same populations after clinical presentation. In mass-screened newborn populations, the 985A>G (K329E) mutation accounts for 54-90% of disease alleles, with homozygotes representing about 47-80% of MCAD deficiency cases. Worldwide, octanoylcarnitine levels are an effective primary screen for MCAD deficiency in newborns. Newborns homozygous for the 985A < G mutation have higher octanoylcarnitine levels than do those compound heterozygous for 985A < G and those with other genotypes. Time of sampling after birth also significantly affects octanoylcarnitine levels in MCAD-deficient newborns. Tandem mass spectrometry newborn blood spot screening for MCAD deficiency is accurate and effective, reduces morbidity and mortality, and merits expansion to other populations worldwide.
根据串联质谱血斑筛查判断，在全球近820万新生儿中，中链酰基辅酶A脱氢酶（MCAD）缺乏症的发病率为1:14600（95%置信区间：1:13500 - 1:15900），比临床表现后在相同人群中确诊的发病率高2至3倍。在进行大规模筛查的新生儿群体中，985A>G（K329E）突变占疾病等位基因的54%至90%，纯合子约占MCAD缺乏症病例的47%至80%。在全球范围内，辛酰肉碱水平是新生儿MCAD缺乏症有效的初步筛查指标。985A<G突变纯合子的新生儿辛酰肉碱水平高于985A<G复合杂合子及其他基因型的新生儿。出生后采样时间也会显著影响MCAD缺乏症新生儿的辛酰肉碱水平。串联质谱新生儿血斑筛查MCAD缺乏症准确有效，可降低发病率和死亡率，值得推广至全球其他人群。
