Division of Medical Genetics, Department of Pediatrics, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, New Jersey 08901, USA.
Am J Med Genet A. 2012 Sep;158A(9):2100-5. doi: 10.1002/ajmg.a.35448. Epub 2012 Jul 27.
In the follow-up of New Jersey newborn screens suggestive of medium chain acyl-CoA dehydrogenase deficiency (MCADD) during a 30-month period, we identified five patients of Hispanic American ethnicity. With information provided by the New Jersey Department of Health and Human Services Newborn Screening program we calculated an overall cumulative incidence of approximately 7.20/100,000 for MCADD; 7.58/100,000 among Hispanic Americans and 7.08/100,000 among non-Hispanic Americans. Among the five Hispanic American infants who screened positive, a common variant (c.443G>A [p.R148K]) was identified which accounted for 30% of the alleles; c.799G>A (p.G267R) and c.985A>G (p.K329E) each accounted for an additional 20%; and a novel variant c.302G>A (p.G101E) was identified in one patient. Although treated prospectively during interim illnesses to prevent unwanted sequelae; till date, none of the patients carrying the c.443G>A variant have been symptomatic.
在对新泽西州新生儿筛查中提示存在中链酰基辅酶 A 脱氢酶缺乏症（MCADD）的患者进行为期 30 个月的随访中，我们发现了五名西班牙裔美国患者。根据新泽西州卫生和公众服务部新生儿筛查计划提供的信息，我们计算出 MCADD 的总体累积发病率约为 7.20/100,000；西班牙裔美国人的发病率为 7.58/100,000，非西班牙裔美国人的发病率为 7.08/100,000。在筛查呈阳性的五名西班牙裔美国婴儿中，发现了一种常见变异（c.443G>A [p.R148K]），占等位基因的 30%；c.799G>A（p.G267R）和 c.985A>G（p.K329E）各占另外的 20%；在一名患者中还发现了一种新的变异 c.302G>A（p.G101E）。尽管在疾病发作期间进行了前瞻性治疗以预防不良后果，但迄今为止，携带 c.443G>A 变异的患者均无症状。
