Talk:Alkaptonuria

Sourcing and recent developments

PMID 9529368 is a recent overview, published in reaction to the linkage to the gene. Nitisinone, more commonly studied for hereditary tyrosinemia type I, is apparently being studied in this disease, see PMID 15322814. JFW | T@lk 23:05, 2 September 2007 (UTC)

WikiProject class rating

This article was automatically assessed because at least one WikiProject had rated the article as start, and the rating on other projects was brought up to start class. BetacommandBot 16:23, 10 November 2007 (UTC)

If anyone is watching

I'm wondering if this shouldn't go for GA. JFW | T@lk 10:36, 28 July 2008 (UTC)

merge w/ ochronosis

It is my understanding that these two are the same thing. If so, why don't we merge them? If not, please tell me how they are different. Thanks, --Brendan19 (talk) 00:41, 7 June 2010 (UTC)

No, see the ochronosis article. There are other (exogenous) causes. JFW | T@lk 10:04, 13 August 2014 (UTC)

Updating

doi:10.1136/jclinpath-2012-200877 is a review by the main UK expert team in Liverpool. Might be useful considering the article is currently weak in terms of sources. JFW | T@lk 22:01, 10 August 2014 (UTC)

doi:10.1007/s10545-011-9363-z - molecular genetics.

doi:10.1186/1471-2415-14-12 - ocular findings systematically reviewed

doi:10.1007/s10545-008-0984-9 - historical review at 100th anniversary of Garrod's lecture

doi:10.1201/b15310-17 - chapter in Atlas of Inherited Metabolic Diseases 3E ISBN 978-1-4441-1225-2

doi:10.1016/B978-0-12-374984-0.00030-9 - entry in Brenner's Encyclopedia of Genetics ISBN 978-0-08-096156-9

doi:10.1111/pcmr.12235 - biology of hyperpigmentation syndromes (small mention)

doi:10.1007/s00296-004-0498-1 - older review (2005)

Will list more if I find anything. JFW | T@lk 10:59, 12 August 2014 (UTC)

Mummy

From the article:

A 1977 study showed that an ochronotic Egyptian mummy had probably suffered from alkaptonuria. Stenn FF, Milgram JW, Lee SL, Weigand RJ, Veis A (1977). "Biochemical identification of homogentisic acid pigment in an ochronotic egyptian mummy". Science. 197 (4303): 566–8. doi:10.1126/science.327549. PMID 327549.{{cite journal}}: CS1 maint: multiple names: authors list (link)

Fascinating, but I would prefer a secondary source, particularly because this is 37 years ago. JFW | T@lk 12:32, 14 August 2014 (UTC)

History

This 1968 article from the Nederlands Tijdschrift voor Geneeskunde has a lot of historical context (link):

• Not much about ochronosis as such
• "Scribonius" in 1548 wrote in "De Inspectione Urinatum" something about brown discoloration of urine after exposure to air
• Boedeker in 1859 wrote about a reducing substance in someone with back pain and clinical features of ochronosis (full citation: Über das Alcapton; ein neuer Beitrag zur Frage: Welche Stoffe des Harns können Kupferreduction bewirken C Boedeker - Z Rat Med, 1859)
• 1891 saw Wolkow and Baumann describe the chemical nature of homogentisic acid

It would be great to have a more recent source. JFW | T@lk 09:40, 25 August 2014 (UTC)

Garrod is fulltext here: http://www.unz.org/Pub/GarrodArchibald-1909

The text is fabulous; it looks like Virchow coined the term "ochronosis" but the link with alkaptonuria was made later. JFW | T@lk 09:49, 25 August 2014 (UTC)