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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引用次数: 0

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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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.