Pharmacodynamic profiling in three patients with molybdenum cofactor deficiency type A reveals prolonged biological effects after withdrawal of cyclic pyranopterin monophosphate
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu časopisecké články, kazuistiky
PubMed
39168057
DOI
10.1016/j.ymgme.2024.108563
PII: S1096-7192(24)00447-5
Knihovny.cz E-zdroje
- Klíčová slova
- Fosdenopterin, Molybdenum cofactor deficiency, Pharmacodynamics, Pharmacokinetics, Sulfite, Thiosulfate, Urate, Xanthine, cPMP,
- MeSH
- lidé MeSH
- metaloproteiny nedostatek metabolismus genetika MeSH
- molybdenové kofaktory MeSH
- pteriny MeSH
- sulfitoxidasa nedostatek metabolismus genetika MeSH
- vrozené poruchy metabolismu kovů * farmakoterapie genetika MeSH
- xanthindehydrogenasa * nedostatek metabolismus genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- metaloproteiny MeSH
- molybdenové kofaktory MeSH
- nulibry MeSH Prohlížeč
- pteriny MeSH
- sulfitoxidasa MeSH
- xanthindehydrogenasa * MeSH
Molybdenum cofactor deficiency type A has successfully been treated in a small number of children with daily intravenous administration of cyclic pyranopterin monophosphate. Pharmacodynamic data for this novel treatment have not been published and alternative dosing intervals have not been explored. We monitored pharmacodynamic biomarkers of sulfite oxidase and xanthine oxidoreductase activity in three patients with MoCD-A for a period of 2 to 9 months after discontinuation of cPMP substitution. We found that the clinical and metabolic effects were sustained for longer than expected, over 7 days at least. Our data implicate a biological half-life of the molybdenum cofactor dependent enzyme activities of approximately 3 days and suggest the possibility that less frequent than once daily dosing intervals could be a safe alternative to current practice.
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