Tags: Disease.
Carnosinemia also called carnosinase deficiency or aminoacyl-histidine dipeptidase deficiency 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.
