In a murine model of alkaptonuria that had been created with ethylnitrosurea by 8188247] [Full Text]" pmid="8188247"Phornphutkul et al.(2002) reported that, in a 51-year-old woman, urinary HGA excretion fell from 2.9 to 0.13 g per day after a 10-day course of nitisinone.
Alkaptonuria is an 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 the cardiac valves (summary by 19862842, images] [Full Text]" pmid="19862842"Alkaptonuria enjoys the historic distinction of being one of the first conditions in which mendelian recessive inheritance was proposed (by Garrod, 1902, on the suggestion of Bateson) and of being 1 of the 4 conditions in the charter group of inborn errors of metabolism.
(2002), kidney stones were documented in 13 male and 3 female patients.
Of the 27 men who were 31 to 60 years old, 8 had prostate stones.
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