The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2024-12-31 DOI:10.1016/j.ymgmr.2024.101185

A. Fisher , R. Boruah , P.D. Mayne , A.A. Monavari , E. Crushell , I. Knerr

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Abstract

We present a case series of seven patients (5 males, 2 females, aged 7–38 yrs.) in Ireland with biopterin metabolism disorder. Five individuals had been diagnosed with dihydropteridine reductase (DHPR) deficiency and two with pyruvoyl tetrahydropterin synthase (PTPS) deficiency. While clinical symptoms were mainly neuro-developmental in nature, one of our patients with DHPR deficiency also had a mild pulmonary valve stenosis and patent arterial duct in infancy which subsequently resolved as a hitherto undescribed finding in this condition. Clinical outcomes in our patient cohort were overall satisfactory with the best outcomes in patients/siblings diagnosed on high-risk screening. In conclusion, early diagnosis, pathophysiology-driven treatments and frequent patient-specific treatment adjustments are crucial to sustain the best possible long-term outcomes.

Ireland's cohort of tetrahydropterin metabolism disorders highlights that improved outcomes are achieved with an early diagnosis which may not be attainable through newborn screening alone.

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爱尔兰共和国四氢生物蝶呤代谢紊乱的代谢景观。

我们报告了爱尔兰7例生物蝶呤代谢紊乱患者（5男2女，年龄7-38岁）的病例系列。5例诊断为二氢蝶呤还原酶（DHPR）缺乏，2例诊断为丙酮酰四氢蝶呤合成酶（PTPS）缺乏。虽然临床症状主要是神经发育性的，但我们的一名DHPR缺乏症患者在婴儿期也有轻度肺动脉瓣狭窄和动脉导管未闭，随后作为迄今未描述的发现在这种情况下得到解决。在我们的患者队列中，临床结果总体上令人满意，在高风险筛查中诊断的患者/兄弟姐妹中结果最好。总之，早期诊断，病理生理驱动的治疗和频繁的患者特异性治疗调整对于维持最佳可能的长期结果至关重要。爱尔兰的四氢蝶呤代谢紊乱队列强调，早期诊断可能无法通过单独的新生儿筛查实现改善的结果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.