AbstractAlkaptonuria, also termed ochronosis is a rare metabolic disorder due to a deficiency of the enzymehomogentisic acid oxidase12.Phenyl AlanineTyrosineP-hydroxyphenyl pyruvic acidHomogentisicMaleylacetoacetic acid`Further CatabolismThe result of HGA oxidase deficiency is an accumulation of homogentisic acid in the body andits deposition preferentially in the cartilages, tendons and other tissues as a blue-black or a brownblack pigment. HGA is also excreted in the urine turning it black if left to stand for a while.
Watts, R.W.E. Inborn errors of Amino Acid metabolism. Weastherall D.J., Redingham JGG and
Warell, D.A. Oxford Textbook of Medicine 1985, 9.89-9, 91.
Zilva. F., Pannal P.R. Inborn errors of metabolism. Clinical Chemistry in diagnosis and treatment
th ed) London Lloyd-Iuke - 1985,395.
Horshaw, R.A., Zimmerman, K.G., Menter, A Ochronosis like pigmentation from hydroquinone
bleaching creams i American blacks. Arch. Dermatol, 1985; 121: 105-8.
Lee, S.L., Stenn, F.F. Characterization of mummy bone ochronotic pigment JMA, 1978; 240: 136.
Rosenberg, L.E. Storage diseases of Amino Acid metabolism Wilson J.D: Braunwald E. Harrison's
principles of internal medicine 12th Ed. 1991: 1875-77.