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Pathway Description
Carnosinuria, Carnosinemia
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-09-27
Carnosinemia, also known as carnosinemia, is a rare inborn error of metabolism (IEM) and recessive autosomal disorder caused by a defective CNDP1 gene which encodes for carnosinase. Carnosinase is a dipeptidase enzyme that catalyzes the breakdown of Carnosine into alanine and histidine. This disorder is characterized by secretion of large amounts of carnosine and anserine in the urine but low levels of methylhistidine. Patients also have unusually high concentrations of homocarnosine in the cerebrospinal fluid. Other symptoms include progressive neurologic disorders characterized by severe mental defect and myoclonic seizures. There is no known cure for Carnosinemia therefore treatment involves management of symptoms. There have been about 30 cases of Carnosinemia reported worldwide.
References
Carnosinuria, Carnosinemia References
[Metagen: CARNOSINURIA, CARNOSINEMIA](http://metagene.de/program/d.prg?id_d=82)
[OMIM: 212200](http://omim.org/entry/212200})
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Pubmed: 6058610
beta-Alanine Metabolism References
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