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Alkaptonuria in a Chinese baby

✍ Scribed by T. -R. Wang; W. -L. Hwu


Book ID
105312311
Publisher
Springer
Year
1989
Tongue
English
Weight
80 KB
Volume
12
Category
Article
ISSN
0141-8955

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Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder, characterized by accumulation of homogentisic acid, leading to darkened urine, pigmentation of connective tissue (ochronosis), joint and spine arthritis, and destruction of cardiac valves. AKU is due to mutations in the homogentisa