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Published by : PROFESSIONAL MEDICAL PUBLICATIONS |
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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 LiteratureMuhammad 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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