The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland
Year: 2024
Type: article
Study design: Case Report
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. • The novel QDPR c.353C > T in our cohort was associated with mild neurodevelopmental impairment and epilepsy. • One treated adult patient with DHPR deficiency successfully had three healthy children. • Patients may be missed on current newborn screening programs. Early diagnosis is associated with improved outcomes.
Institution: Temple Street Children's University Hospital
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,410
OpenAlex ID: W4405928784