: Patologías humanas: carnosinemia

disease > genetic disease > hereditary disease > aminoacid disorder > carnosinemia

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carnosinemia

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)

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