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Pathway Description
Alkaptonuria
Homo sapiens
Disease Pathway
Created: 2013-08-19
Last Updated: 2022-10-27
Alkaptonuria (Homogentisic acid oxidase deficiency) is an autosomal recessive disease caused by a mutation in the HGD gene which codes for homogentisate 1,2-dioxygenase. A mutation in this enzyme results in accumulation of homogentisic acid in urine. Symptoms, which present in adulthood, include arthritis, black or brown urine, and urolithiasis. Treatment includes a low-protein diet with vitamin C.
References
Alkaptonuria References
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.22 Heilbronn: SPS Verlagsgesellschaft
[Uniprot: Q93099](http://www.uniprot.org/uniprot/Q93099)
[OMIM: Entry 203500](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203500)
[Wikipedia: Alkaptonuria](http://en.wikipedia.org/wiki/Alkaptonuria)
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Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.24 Heilbronn: SPS Verlagsgesellschaft
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Pubmed: 23511227
Tyrosine Metabolism References
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Pubmed: 14702039
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Pubmed: 3443096
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