Concept information
Preferred term
carnosinemia
Definition(s)
- Carnosinemia, is a rare autosomal recessive metabolic disorder caused by a deficiency of carnosinase', a dipeptidase (a type of enzyme that splits dipeptides into their two amino acid constituents).Carnosine is a dipeptide composed of beta-alanine and histidine, and is found in skeletal muscle and cells of the nervous system. (Wikipedia)
Broader concept(s)
In other languages
-
French
URI
http://data.loterre.fr/ark:/67375/VH8-PQTWS21G-M
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