Loading Pathway...
Error: Pathway image not found.
Hide
Pathway Description
Carnosinuria, Carnosinemia
Mus musculus
Disease Pathway
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
Perry TL, Hansen S, Tischler B, Bunting R, Berry K: Carnosinemia. A new metabolic disorder associated with neurologic disease and mental defect. N Engl J Med. 1967 Dec 7;277(23):1219-27. doi: 10.1056/NEJM196712072772302.
Pubmed: 6058610
beta-Alanine Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from PW000469
Highlighted elements will appear in red.
Highlight Compounds
Highlight Proteins
Enter relative concentration values (without units). Elements will be highlighted in a color gradient where red = lowest concentration and green = highest concentration. For the best results, view the pathway in Black and White.
Visualize Compound Data
Visualize Protein Data
Downloads
Settings