ALKAPTONURIA
Abstract
Alkaptonuria, 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.References
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
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Horshaw, R.A., Zimmerman, K.G., Menter, A Ochronosis like pigmentation from hydroquinone
bleaching creams i American blacks. Arch. Dermatol, 1985; 121: 105-8.
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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.
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