ALKAPTONURIA

Authors

  • Mohammad Javed
  • Imranullah Khan
  • Nadeem Afzal

Abstract

Alkaptonuria, also termed ochronosis is a rare metabolic disorder due to a deficiency of the enzyme
homogentisic acid oxidase12.
Phenyl Alanine
Tyrosine
P-hydroxyphenyl pyruvic acid
Homogentisic
Maleylacetoacetic acid
`
Further Catabolism
The result of HGA oxidase deficiency is an accumulation of homogentisic acid in the body and
its deposition preferentially in the cartilages, tendons and other tissues as a blue-black or a brown
black 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

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.

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How to Cite

Javed, M., Khan, I., & Afzal, N. (1993). ALKAPTONURIA. Journal of Ayub Medical College Abbottabad, 6(1), 21–23. Retrieved from https://jamc.ayubmed.edu.pk/index.php/jamc/article/view/4738

Issue

Vol. 6 No. 1 (1993): JOURNAL OF AYUB MEDICAL COLLEGE, ABBOTTABAD

Section

CASE REPORT

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