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Alkaptonuria (Black Urine Disease)

Alkaptonuria (Black Urine Disease). By: Rebecca Martin Krista Blackwell Krysten LaFountain-Pavlak Veronica Jones. What is it?. Rare, recessive, genetic disorder Caused by genetic mutation to homogentisate 1,2-dioxygenase gene (HGD gene) 1/250,000 affected (AKU Brochure, 2010)

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Alkaptonuria (Black Urine Disease)

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  1. Alkaptonuria(Black Urine Disease) By: Rebecca Martin Krista Blackwell KrystenLaFountain-Pavlak Veronica Jones

  2. What is it? • Rare, recessive, genetic disorder • Caused by genetic mutation to homogentisate 1,2-dioxygenase gene (HGD gene) • 1/250,000 affected (AKU Brochure, 2010) • Homogentisatedioxygenase enzyme cannot breakdown homogentisic acid from Phenylalanine and Tyrosine • Not a well known disease AKU. Liverpool : Alkaptonuria Society, 2006. Print.

  3. Metabolic Pathway • Homogentisate dioxygenase(enzyme) breaks down Phenylalanine and Tyrosine • Pathway not working, can’t break down Amino Acids • Without breakdown, phenylalanine and tyrosine accumulate in connective tissues • Ochronosis • i.e. cartilage Genetics Home Reference, 2010. AKU. Liverpool : Alkaptonuria Society, 2006. Print.

  4. http://www.google.com/imgres?imgurl=http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi%3Fbook%3Dgene%26part%3Dalkap%26blobname%3DalkapFig1.jpg&imgrefurl=http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi%3Fbook%3Dgene%26part%3Dalkap&usg=__nINDz314Tuj61aTi9kfswFgZR1g=&h=451&w=575&sz=213&hl=en&start=0&zoom=1&tbnid=DT46oUD0as8cpM:&tbnh=142&tbnw=181&prev=/images%3Fq%3DAlkaptonuria%2Bmetabolic%2Bpathway%26um%3D1%26hl%3Den%26client%3Dfirefox-a%26sa%3DN%26rls%3Dorg.mozilla:en-US:official%26biw%3D1280%26bih%3D589%26tbs%3Disch:1&um=1&itbs=1&iact=hc&vpx=334&vpy=79&dur=2463&hovh=199&hovw=254&tx=74&ty=222&ei=xRvUTPf1AsL58Aaq7_26BQ&oei=xRvUTPf1AsL58Aaq7_26BQ&esq=1&page=1&ndsp=18&ved=1t:429,r:1,s:0http://www.google.com/imgres?imgurl=http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi%3Fbook%3Dgene%26part%3Dalkap%26blobname%3DalkapFig1.jpg&imgrefurl=http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi%3Fbook%3Dgene%26part%3Dalkap&usg=__nINDz314Tuj61aTi9kfswFgZR1g=&h=451&w=575&sz=213&hl=en&start=0&zoom=1&tbnid=DT46oUD0as8cpM:&tbnh=142&tbnw=181&prev=/images%3Fq%3DAlkaptonuria%2Bmetabolic%2Bpathway%26um%3D1%26hl%3Den%26client%3Dfirefox-a%26sa%3DN%26rls%3Dorg.mozilla:en-US:official%26biw%3D1280%26bih%3D589%26tbs%3Disch:1&um=1&itbs=1&iact=hc&vpx=334&vpy=79&dur=2463&hovh=199&hovw=254&tx=74&ty=222&ei=xRvUTPf1AsL58Aaq7_26BQ&oei=xRvUTPf1AsL58Aaq7_26BQ&esq=1&page=1&ndsp=18&ved=1t:429,r:1,s:0 Metabolic Pathway

  5. Phenylalanine & Tyrosine Catabolic Pathway Oxidoreductase Oxidoreductase Isomerase Hydrolase http://memo.cgu.edu.tw/chia-chu/c6.html

  6. http://umbbd.msi.umn.edu/core/graphics/c0109.gif http://umbbd.msi.umn.edu/core/graphics/c0069.gif http://umbbd.msi.umn.edu/core/graphics/c0111.gif 4-Fumarylacetoacetate Fumarate Acetoacetate http://www.elmhurst.edu/~chm/vchembook/635pku.html

  7. AKU. Liverpool : Alkaptonuria Society, 2006. Print. Symptoms http://mizzouderm.com/uploads/4/4/2/3/4423869/7790022.jpg?237 Color change in Connective Tissue (cartilage) • Dark brown, black, blue urine • Arthritis • Kidney stones • Prostate stones • Heart problems • Darkening of ear • Dark spots in white of eyes (Ochronosis) • Hardening of blood valves • Build-up of fats and cholesterol in blood • Brittle bones • Build-up of pigments in respiratory system (leads to troubled breathing) http://bjo.bmj.com/content/83/6/680/F1.large.jpg Ochronosis in Eye sclera

  8. Symptoms • A: Normal Urine • B:Urine from patient with AKU • Black urineresults from exposure to Oxygen http://www.clinmedres.org/content/vol2/issue4/images/large/209.fig3.jpeg

  9. Treatments • No known cure • Low protein diet • Vitamin C • Clinical Testing: Nitisione (herbicide) • Reduces acid production • Currently undergoing Clinical Testing • Results have proven to reduce acid buildup by 95% (short-term studies) Alkaptonuria Society, 2006

  10. Works Cited: • AKU. Liverpool : Alkaptonuria Society, 2006. Print. • U.S. National Library of Medicine. 2010. Genetics Home Reference. Alkaptonuria. http://ghr.nlm.nih.gov/condition/alkaptonuria • 2010. Photograph. University of Minnesota: Biocatalysis/Biodegredation Database. http://umbbd.msi.umn.edu/

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