ArticleMolecular genetics and metabolism reports2025
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland.
Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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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