Myocardial Infarction with Alkaptonuria: A Case Report

Autor: KS Lakshmi, R Gomathy, S Arundhathi, S Prathibha
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: Journal of Clinical and Diagnostic Research, Vol 12, Iss 1, Pp BD01-BD02 (2018)
Druh dokumentu: article
ISSN: 2249-782X
0973-709X
DOI: 10.7860/JCDR/2018/14155.11039
Popis: Alkaptonuria is an autosomal recessive disorder due to deficiency of homogentesic acid oxidase, an important enzyme in the catabolism of aromatic amino acids. Homogentesic acid is finally converted to fumarate and acetoacetate. Reduced activity of this oxidase causes accumulation of homogentesic acid in the cells and body fluids. Here we describe an interesting case of alkaptonuria in a 50-year-old man, previously diagnosed as osteoarthritis who succumbed to myocardial infarction, which is one of the complications of alkaptonuria.
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