Department of General Pediatrics, University Children's Hospital, Moorenstrasse 5, Düsseldorf, Germany.
Eur J Pediatr. 2010 May;169(5):569-72. doi: 10.1007/s00431-009-1074-1. Epub 2009 Oct 8.
In most countries, hereditary tyrosinemia type 1 is not included in routine newborn screening.
We present the case of a female newborn with prenatal diagnosis of hereditary tyrosinemia type 1 and clear identification of this disorder by succinylacetone measurement in cord blood and peripheral blood immediately after birth. Succinylacetone was 44 micromol/L (norm <5 micromol/L) and increased within 12 h to 87.5 micromol/L.
With the high toxic potential of downstream metabolites, these data clearly point out the necessity of early nitisinone treatment to prevent symptomatic disease.
在大多数国家，1 型遗传性酪氨酸血症并未纳入常规新生儿筛查。
我们报告了一例女性新生儿，其在产前诊断为 1 型遗传性酪氨酸血症，并在出生后立即通过脐带血和外周血中琥珀酰丙酮测量明确识别出该疾病。琥珀酰丙酮为 44μmol/L（正常值 <5μmol/L），在 12 小时内升高至 87.5μmol/L。
由于下游代谢物具有很高的毒性潜力，这些数据清楚地表明必须尽早开始尼替西农治疗，以预防有症状的疾病。
