Article
Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency.
Journal of inherited metabolic disease - 1 Jan 2018
Peters Verena, Zschocke Johannes, Schmitt Claus P
Abstract excerpt
Carnosinase (CN1) is a dipeptidase, encoded by the CNDP1 gene, that degrades histidine-containing dipeptides, such as carnosine, anserine and homocarnosine. Loss of CN1 function (also called carnosinase deficiency or aminoacyl-histidine dipeptidase deficiency) has been reported in a small number of patients with highly elevated blood carnosine concentrations, denoted carnosinaemia; it is unclear whether the...
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