Question
A. Homogentisic acid
B. Phenylpyruvate
C. Xanthurenate
D. Glyoxylate
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Correct Answer » A Explanation |
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Alkaptonuria is an autosomal recessive condition due to the deficiency of homogentisate 1,2 dioxidase. This results in the excretion of homogentisic acid in urine.is compatible with a fairly normal life.
The only abnormality is the blackening of urine on standing. Homogentisic acid is oxidized by polyphenol oxidase to benzoquinone acetate. It is then polymerized to black colored alkapton bodies.
By the 3rd or 4th decade of life, the patient may develop ochronosis (deposition of alkapton bodies in intervertebral discs, cartilages of nose, pinna of the ear). Black pigments are deposited over the connective tissues including joint cavities to produce arthritis.
No specific treatment is required. But minimal protein intake with phenylalanine less than 500 mg/day is recommended.
