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Journal of Case Reports and Scientific Images
2021, Vol. 3, Issue 2, Part A
A rare case of metabolic disorder- Alkaptonuria
Author(s): Dr. Mounika Katyayani K, Dr. Vamsikrishna Reddy K, Dr. Vamsikrishna P, Dr. Kanta Kumari P and Dr. Vijaya Laxmi B
Abstract: Alkaptonuria is a rare genetic disorder of tyrosine metabolism, due to deficiency of the enzyme homogentisate 1, 2 dioxygenase. This results in characteristic features like blackish urine discoloration, ochronosis, arthropathy, cardiac valve deterioration. In this paper, the authors presenta case report of a 4-month-old boy who was brought by his mother to the well-baby clinic, with a chief complaint of black staining of nappy, a few hours after voiding. A qualitative examination of urine after an hour of the collection showed dark black discoloration, Quantitative examination reveals the presence of homogentisic acid to the extent of200mg/dl. The Diagnosis of Alkaptonuria was confirmed and the infant was started on Vitamin C and put under regular follow-up.
DOI: 10.22271/27080056.2021.v3.i2a.35
Pages: 26-28 | Views: 270 | Downloads: 95
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How to cite this article:
Dr. Mounika Katyayani K, Dr. Vamsikrishna Reddy K, Dr. Vamsikrishna P, Dr. Kanta Kumari P, Dr. Vijaya Laxmi B. A rare case of metabolic disorder- Alkaptonuria. J Case Rep Sci Images 2021;3(2):26-28. DOI: 10.22271/27080056.2021.v3.i2a.35
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