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4-hydroxyphenylpyruvate dioxygenase inhibitor therapy #71

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pnrobinson opened this issue Aug 22, 2023 · 2 comments
Open

4-hydroxyphenylpyruvate dioxygenase inhibitor therapy #71

pnrobinson opened this issue Aug 22, 2023 · 2 comments

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@pnrobinson
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pnrobinson commented Aug 22, 2023

@LCCarmody
We need this for the Tyrosinaemia type I example
see - https://pubmed.ncbi.nlm.nih.gov/9728331/ and other OMIM entries

suggested def

Treatment with any member of a group of drugs that reduce the activity of 4-hydroxyphenylpyruvate dioxygenase. An example is NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).
Comment: In patients with tyrosinemia, treatment with NTBC has been shown to efficiently prevent tyrosine degradation, and production of succinylacetone.PMID: 9728331

@LCCarmody
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I"ve already added it. MAXO:0001501, but it isn't out yet because I need to (have Nico) make a release

@LCCarmody
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already added, but switched labels for ease of finding.

@LCCarmody LCCarmody transferred this issue from monarch-initiative/MAxO Jul 25, 2024
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