Which of the following result from accumulation of homogentisic acid?
Ochronosis is a rare autosomal recessive disorder caused by a deficiency of homogentisic acid oxidase leading to the accumulation of homogentisic acid in connective tissue. Accumulation of homogentisic acid in the cailage, tendons and sclera leads to a darker brown to black discolouration called ochronosis. Albinism is an autosomal recessive disease with defective melanin synthesis. In this condition tyrosinase is completely absent leading to defective synthesis of melanin. Type I Tyrosinemia is an inborn error of metabolism caused by a deficiency of fumarylacetoacetase, the last enzyme involved in tyrosine degradation pathway. It results in the accumulation of fumarylacetoacetate, maleylacetoacetate and succinylacetone which inturn cause liver and kidney damage. Ref: Textbook of Biochemistry By D M Vasudevan, 3rd Edition, Page 184
Ochronosis
Tyrosinemia
Albinism
Tyrosinosis