We also diagnosed a 50+ patient a year or so ago. She had had arthritic
problems for some years but more recently had developed blue/black spots
on the white of her eyes and a blue/black tinge to the end of her nose
and ears -an astute opthamologist made the connection between the
arthritis and the blue/black spots. My understanding is that relatively
few patients present in childhood or adolescence -a much later
presentation is more common, presumably as it takes time for the
homogentisic acid to build up and do the damage. So age is certainly no
bar to suspecting a diagnosis. Confirming (or ruling out) the
diagnosis is easy - organic acid analysis of a urine sample by GC-MS
will pick up an enormous big peak of homogentisic acid. It completely
dwarfs all other metabolites in the chromatogram and cannot be missed.
Unaffected people don't produce any detectable homogentisic acid at all.
Claire.
---------------------------------------------------
Claire Hart
Clinical Biochemist
Department of Clinical Chemistry
Sheffield Children's Hospital
Western Bank
Sheffield
S10 2TH
0114 271 7307
>>> Mohmed Ashmaig <[log in to unmask]> 1/11/2005 10:16:59 PM >>>
Dear All,
65 years old patient, his normal yellow looking urine
turned to dark-black colour on standing at room
temperature. The questions are:
1- Alkaptonuria, could be the only possible cause??
2- Alkaptonuria, is it likely to be at this age??
3- What is the minimum time required for the
homogentisic acid to turn the urine to dark colour??
4- Do we need to confirm the diagnosis at this stage
or what?? or what you recommend at this stage.
Thank you for your comment
Mohmed Ashmaig
USA
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