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首页> 外文期刊>International Journal of Neonatal Screening >Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency
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Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency

机译：遗传测试的实用程序，用于确认长链脂肪酸疾病的异常新生儿筛查：肉碱棕榈酸转移酶1A（CPT1A）缺乏症

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An 18-month-old male was evaluated after presenting with disproportionately elevated liver transaminases in the setting of acute gastroenteritis. He had marked hepatomegaly on physical exam that was later confirmed with an abdominal ultrasound. Given this clinical picture, suspicion for a fatty acid oxidation disorder was raised. Further investigation revealed that his initial newborn screen was positive for carnitine palmitoyltransferase 1A (CPT1A) deficiency?￠????a rare autosomal recessive disorder of long-chain fatty acid oxidation. Confirmatory biochemical testing in the newborn period showed carnitine levels to be unexpectedly low with a normal acylcarnitine profile. Thus, it was considered to be a false-positive newborn screen and metabolic follow-up was not recommended. Repeat biochemical testing during this hospitalization revealed a normal acylcarnitine profile. The only abnormalities noted were a low proportion of acylcarnitine species from plasma, an elevated free-to-total carnitine ratio, and mild hypoketotic medium chain dicarboxylic aciduria on urine organic acids. Gene sequencing of CPT1A revealed a novel homozygous splice site variant that confirmed his diagnosis. CPT1A deficiency has a population founder effect in the Inuit and other Arctic groups, but has not been previously reported in persons of Ashkenazi Jewish ancestry.
机译：在急性胃肠炎的情况下，出现肝转移酶升高不成比例的情况后，对一名18个月大的男性进行了评估。他在体检中发现肝肿大，随后经腹部超声证实。鉴于这种临床情况，人们怀疑存在脂肪酸氧化疾病。进一步的调查显示，他最初的新生儿筛查结果显示肉碱棕榈酰转移酶1A（CPT1A）缺乏阳性，这是一种罕见的长链脂肪酸氧化常染色体隐性遗传疾病。新生儿期的生化测试证实，肉碱水平异常低，酰基肉碱水平正常。因此，这被认为是新生儿筛查为假阳性，不建议进行代谢随访。在此住院期间重复进行生化测试，显示出正常的酰基肉碱特征。注意到的唯一异常是血浆中的酰基肉碱种类比例低，游离肉碱总比重升高以及尿液有机酸存在轻度低酮症中链二羧酸尿症。 CPT1A的基因测序揭示了一种新的纯合剪接位点变异，证实了他的诊断。 CPT1A缺乏症在因纽特人和其他北极群体中具有人口奠基者的作用，但以前在Ashkenazi犹太血统的人中尚未报道过。

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