AKU. Liverpool : Alkaptonuria Society, 2006. Print.
• 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.
http://www.google.com/imgres?imgurl=http://www.ncbi.nlm.nih.gov/bookshelf/picre
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1,s:0
Oxidoreductase
Oxidoreductase
Isomerase
Hydrolase
http://memo.cgu.edu.tw/chiachu/c6.html
http://umbbd.msi.umn.
edu/core/graphics/c010
9.gif
http://umbbd.msi.umn
.edu/core/graphics/c00
69.gif
http://umbbd.msi
.umn.edu/core/gr
aphics/c0111.gif
4-Fumarylacetoacetate
Fumarate
http://www.elmhurst.edu/~chm/vchemb
ook/635pku.html
Acetoacetate
AKU. Liverpool : Alkaptonuria
Society, 2006. Print.
http://mizzouderm.com/uploa
ds/4/4/2/3/4423869/7790022.j
pg?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
A: Normal Urine
B: Urine from
patient with AKU
Black urine
results from
exposure to
Oxygen
http://www.clinmedres.
org/content/vol2/issue
4/images/large/209.fig
3.jpeg
•
•
•
•
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
• 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/