Pharmacodynamic profiling in three patients with molybdenum cofactor deficiency type A reveals prolonged biological effects after withdrawal of cyclic pyranopterin monophosphate
Language English Country United States Media print-electronic
Document type Journal Article, Case Reports
PubMed
39168057
DOI
10.1016/j.ymgme.2024.108563
PII: S1096-7192(24)00447-5
Knihovny.cz E-resources
- Keywords
- Fosdenopterin, Molybdenum cofactor deficiency, Pharmacodynamics, Pharmacokinetics, Sulfite, Thiosulfate, Urate, Xanthine, cPMP,
- MeSH
- Humans MeSH
- Metalloproteins deficiency metabolism genetics MeSH
- Molybdenum Cofactors MeSH
- Pterins MeSH
- Sulfite Oxidase deficiency metabolism genetics MeSH
- Metal Metabolism, Inborn Errors * drug therapy genetics MeSH
- Xanthine Dehydrogenase * deficiency metabolism genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- Metalloproteins MeSH
- Molybdenum Cofactors MeSH
- nulibry MeSH Browser
- Pterins MeSH
- Sulfite Oxidase MeSH
- Xanthine Dehydrogenase * 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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