Alkaptonuria Alkaptonuria is inherited as an autosomal recessive disorder. It has been mapped to chromosome 3 and is a disorder of homogentisate oxidase. Ochronosis is a dark blue discoloration that is easiest observed in regions of skin that overly cartilage. Although the disease makes one miserable, there does not seem to be a reduced life expectancy. Since this disease is, relatively speaking, benign, it is probably not necessary to reduce the amounts of phe and trp in the diet.
Arthritis is treated with anti-inflammatory drugs.
Additionally, there is an incredible amount of reduced penetrance. It could be inherited autosomal dominant OR recessive. The involved protein is b -amyloid protein. Alzheimer's alters language skills, personality and causes seizures. Although determination of apolipoprotein E4 levels is available for diagnostic testing, the results are unreliable.