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Rheumatology Advance Access originally published online on November 20, 2006
Rheumatology 2007 46(2):358-359; doi:10.1093/rheumatology/kel345
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© The Author 2006. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Alkaptonuria: a 60-yr follow-up

R. W. E. Watts and R. A. Watts1,2

Department of Medicine Imperial College, Hammersmith Campus, 1School of Medicine, Health Policy and Practice, University of East Anglia and 2Ipswich Hospital.

Correspondence to: Dr R. W. E. Watts Department of Medicine, Imperial College, Hammersmith Campus, DuCane Road, London W12 0HS.

KEY WORDS: Alkaptonuria, Medical history

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In 1901, Sir Archibald Edward Garrod made the seminal observation on the inheritance of the inborn errors of metabolism [1, 2]. He described a newborn infant whose urine darkened in its napkin on exposure to air and contained homogentisic acid [2]. The infant was born to apparently normal consanguineous (first cousins) parents and was their fifth child. An older sibling (Thomas P) had previously been shown by Garrod to have alkaptonuria. At that time the inheritance of alkaptonuria and other metabolic conditions was not understood. Garrod was aware that the mother of Thomas P was pregnant and made arrangements to carefully observe all the napkins. The infant was born on 1 March 1901 and the typical . . . [Full Text of this Article]


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