Journal
CUREUS JOURNAL OF MEDICAL SCIENCE
Volume 15, Issue 3, Pages -Publisher
CUREUS INC
DOI: 10.7759/cureus.35792
Keywords
ascorbic acid; nitisinone; biochemical tests; ochronosis; homogentisic acid; genetics; alkaptonuria
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This article discusses the case of an 80-year-old female patient with incidental findings of alkaptonuria, a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. It is crucial to understand the fundamental diagnostic investigations that can be used in low-income nations or facilities where investigations like genetic testing, gas chromatography, and mass spectrometry are not readily available for the diagnosis of alkaptonuria.
Alkaptonuria is a rare genetic metabolic disorder of autosomal recessive inheritance characterised by the accumulation of homogentisic acid in the body. It is diagnosed upon identification of characteristic symptoms, using various biochemical investigations, radiographic pictures, and a variety of specialised tests. Here we are discussing the case of an 80-year-old female patient with incidental findings of alkaptonuria. It is crucial to understand the fundamental diagnostic investigations that can be used in low-income nations or facilities where investigations like genetic testing, gas chromatography, and mass spectrometry are not readily available for the diagnosis of alkaptonuria.
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