Pakistan Journal of Medical Sciences

Published by : PROFESSIONAL MEDICAL PUBLICATIONS

ISSN 1681-715X

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CASE REPORT

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Volume 23

July - September 2007

Number  4


 

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Alkaptonuria – Case report and
Review of Literature

Muhammad Nafees1, Muhammad Muazzam2

SUMMARY

Alkaptonuria (AKU) is an important inborn error of metabolism. A documented case in a Pakistani family is being reported. The study concludes that Alkaptonuria (AKU) does occur in Pakistan.

KEYWORDS: Alkaptonuria, Homogentisic acid, urine chromatography, inborn errors of metabolism.

Pak J Med Sci   July - September 2007   Vol. 23 No. 4   650-653


1. Dr. Muhammad Nafees, M. Phil
Department Of Chemical Pathology,
King Edward Medical University,
Lahore – Pakistan.
2. Dr. Muhammad Muazzam, DCP, M. Phil
Consultant Chemical Pathologist,
Chaudhary Rehmat Ali Trust Hospital,
Lahore – Pakistan.

Correspondence

Dr. Muhammad Nafees
Email: nafeeskhan50@yahoo.com

* Received for Publication: October 16, 2006
* Revision Received: November 10, 2007
* Revision Accepted: April 2, 2007


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