Phenylketonuria

Phenylketonuria
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                                                      Melanin                                                       Albinism into 4- Phenylalanine --> Phenylketonuria --> Tyrosine --> Homogentisic Acid --> Alkaptonuria --> CO2 + H2O

                                                             Cretinism

Phenylpyruvic Acid                                 Thyroxine

Simple Diagram of Alkaptonuria

In alkaptonuria the enzyme homogentisate doxygenase is deficient. The metabolism of homogentisic acid into Maleyl-acetoacetic acid is blocked. Homogentisic acid then accumulates as a toxic byproduct and is detectable in blood and urine in large quantities.

Homogentisic acid causes damade to various tissues:

Cartilage --> Ochronosis, Osteoarthritis Heart valves --> Valve insufficiency, calcification Renal gland --> Nephrolithiasis  

 

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 - Uploaded at 02.05.2012
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