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首页> 外文期刊>International Journal of Neonatal Screening >Neonatal Screening for Primary Carnitine Deficiency: Lessons Learned from the Faroe Islands
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Neonatal Screening for Primary Carnitine Deficiency: Lessons Learned from the Faroe Islands

机译：初级肉碱缺乏症的新生儿筛查：从法罗群岛汲取的经验教训

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Primary carnitine deficiency is caused by the defective OCTN2 carnitine transporter encoded by the SLC22A5 gene. A lack of carnitine impairs fatty acid oxidation resulting in hypoketotic hypoglycemia, hepatic encephalopathy, skeletal and cardiac myopathy, and arrhythmia. This condition can be detected by finding low levels of free carnitine (C0) in neonatal screening. Mothers with primary carnitine deficiency can also be identified by low carnitine levels in their infant by newborn screening. Primary carnitine deficiency is rare (1:40,000?￠????1:140,000 newborns) except in the Faroe Islands (1:300) due to a founder effect. A specific mutation (c.95A>G, p.N32S) is prevalent, but not unique, with three additional mutations (c.131C>T/p.A44V, a splice mutation c.825-52G>A, and a risk-haplotype) recently identified in the Faroese population. In the Faroe Islands, several adult patients suffered sudden death from primary carnitine deficiency leading to the implementation of a nationwide population screening (performed after 2 months of age) in addition to universal neonatal screening. While most affected infants can be identified at birth, some patients with primary carnitine deficiency might be missed by the current neonatal screening and could be better identified with a repeated test performed after 2 months of age.
机译：原发性肉碱缺乏症是由SLC22A5基因编码的OCTN2肉碱转运蛋白缺陷引起的。缺乏肉碱会损害脂肪酸氧化，从而导致低酮症性低血糖症，肝性脑病，骨骼和心脏肌病以及心律不齐。可通过在新生儿筛查中发现低水平的游离肉碱（C0）来检测这种情况。原发性肉碱缺乏的母亲也可以通过新生儿筛查发现婴儿的肉碱水平较低。除了法罗群岛（1：300）以外，由于创始者的影响，原发性肉碱缺乏症很少见（1：40,000→1：140,000新生儿）。特定突变（c.95A> G，p.N32S）普遍存在，但并非唯一，另外还有三个突变（c.131C> T / p.A44V，剪接突变c.825-52G> A，并且有风险-单倍型）。在法罗群岛，除了成人新生儿筛查外，几名成年患者因肉碱缺乏症而猝死，导致实施了全国人口筛查（2个月后进行）。虽然大多数受影响的婴儿可以在出生时确定，但目前的新生儿筛查可能会漏诊一些原发性肉碱缺乏的患者，并且在2个月大后进行重复测试可以更好地鉴定出这些患者。

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