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Carl L. Mauser, M.D.
JAMA. 1951;146(9):815-816. doi:10.1001/jama.1951.63670090001014.
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Alkaptonuria is a rare disease of very little clinical importance except that it may be confused with other conditions, particularly glycosuria of diabetes mellitus. The etiological factor is apparently due to an inborn error in protein metabolism resulting in the excretion of homogentisic acid in the urine. The two amino acids which have been incriminated as the source of abnormal metabolism are tyrosine and phenylalanine. These two amino acids are the source of homogentisic acid. The clinical manifestations of alkaptonuria were first described by Marcet1 in 1823. However, the nature of the reducing material in the urine was first recognized by Marshall.2 The condition is thought to be hereditary; however, this is not always proved. The patient with alkaptonuria usually has no clinical manifestations unless he has pigmentation of the cartilages, then called ochronosis. The condition is felt to be completely benign. The urine on standing becomes alkaline


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