We report the case of a 17‐year‐old girl with Tyrosinemia type 1a who carried a planned pregnancy to term while being under 2‐(2‐nitro‐4‐trifluoromethylbenzoyl)‐1,3‐cyclohexanedione (NTBC, nitisinone) treatment and a tyrosine‐ and phenylalanine‐restricted diet. She was on treatment since 2 months of age with poor metabolic control prior to her pregnancy (tyrosine 838 ± 106 umol/L). NTBC and a low tyrosine and phenylalanine diet were continued during her pregnancy. She unfortunately suffered from urinary tract infection and anemia during her pregnancy, with median plasma tyrosine and phenylalanine levels of 613 ± 106 umol/L (200–400 umol/L) and 40.2 ± 8 umol/L (35–90 umol/L), respectively. After 40 weeks of gestation, the patient gave birth to a healthy boy, with no adverse effects related to the use of NTBC. The newborn presented with a transitory elevation of plasma tyrosine levels and normal phenylalanine, methionine, and succinylacetone levels. By 12 months of age, the child was determined to have normal psychomotor development. At 20 months old, he was diagnosed with a mild developmental delay; however, global cognitive evaluation with the Wechsler Intelligence Scale for Children (WISC) test at 5 years old showed normal performance. Here, we discuss one of the few reported cases of nitisinone treatment during pregnancy and demonstrate a lack of teratogenicity and long‐term cognitive disabilities.

中文翻译：

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病例报告：智利 NTBC 用酪氨酸和苯丙氨酸限制饮食治疗的 1a 型母体酪氨酸血症

我们报告了一名患有 1a 型酪氨酸血症的 17 岁女孩，她在接受 2-(2-硝基-4-三氟甲基苯甲酰基)-1,3-环己二酮 (NTBC, 尼替西农) 治疗期间计划怀孕至足月，并且限制酪氨酸和苯丙氨酸的饮食。她从 2 个月大开始接受治疗，怀孕前代谢控制不佳（酪氨酸 838 ± 106 umol/L）。NTBC 和低酪氨酸和苯丙氨酸饮食在她怀孕期间继续进行。不幸的是，她在怀孕期间患有尿路感染和贫血，血浆酪氨酸和苯丙氨酸的中位数分别为 613 ± 106 umol/L (200–400 umol/L) 和 40.2 ± 8 umol/L (35–90 umol/L) ， 分别。妊娠 40 周后，患者生下了一个健康的男孩，没有与使用 NTBC 相关的不良反应。新生儿表现为血浆酪氨酸水平短暂升高，苯丙氨酸、蛋氨酸和琥珀酰丙酮水平正常。到 12 个月大时，孩子被确定有正常的精神运动发育。在 20 个月大时，他被诊断出患有轻度发育迟缓；然而，在 5 岁时使用韦氏儿童智力量表 (WISC) 测试进行的全球认知评估显示正常表现。在这里，我们讨论了少数报道的怀孕期间尼替西农治疗的病例之一，并证明了缺乏致畸性和长期认知障碍。然而，在 5 岁时使用韦氏儿童智力量表 (WISC) 测试进行的全球认知评估显示正常表现。在这里，我们讨论了少数报道的怀孕期间尼替西农治疗的病例之一，并证明了缺乏致畸性和长期认知障碍。然而，在 5 岁时使用韦氏儿童智力量表 (WISC) 测试进行的全球认知评估显示正常表现。在这里，我们讨论了少数报道的怀孕期间尼替西农治疗的病例之一，并证明了缺乏致畸性和长期认知障碍。