" /> Dihydropyrimidine dehydrogenase deficiency - CISMeF





Preferred Label : Dihydropyrimidine dehydrogenase deficiency;

ICD-11 definition : This refers to deficiency in an enzyme that is involved in pyrimidine degradation. It is the initial and rate-limiting step in pyrimidine catabolism.;

ICD-11 synonym : Dihydrouracil dehydrogenase deficiency; Familial pyrimidinaemia;

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This refers to deficiency in an enzyme that is involved in pyrimidine degradation. It is the initial and rate-limiting step in pyrimidine catabolism.

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31/07/2025


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