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ALKAPTONURIA: THE RARE DISEASE THAT TURNS URINE BLACK
2023年10月10日 · Black urine is the most distinctive symptom of Alkaptonuria, occurring when urine is exposed to air, allowing for HGA to oxidize. The urine color may vary depending on the amount of HGA and the pH of the urine. Some of the HGA builds up in the system, turning cartilage and bones black (hence black bone disease).
Alkaptonuria: MedlinePlus Medical Encyclopedia
2023年4月24日 · Alkaptonuria is a rare condition in which a person's urine turns a dark brownish-black color when exposed to air. Alkaptonuria is part of a group of conditions known as an inborn error of metabolism.
Alkaptonuria - GeneReviews® - NCBI Bookshelf
2003年5月9日 · The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after …
Alkaptonuria: MedlinePlus Genetics
2003年5月9日 · Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue …
What is alkaptonuria? The rare disease that turns your pee black
2025年1月30日 · Alkaptonuria is an unusual disorder caused by a defect in protein metabolism. ... Patients with alkaptonuria have dark-stained connective tissues and black urine because a genetic mutation causes ...
Alkaptonuria - Wikipedia
Homogentisic acid and its oxidized form alkapton are excreted in the urine, giving it an unusually dark color. The accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves, as well as precipitating as kidney stones and stones in …
Alkaptonuria Information | Mount Sinai - New York
Alkaptonuria is a rare condition in which a person's urine turns a dark brownish-black color when exposed to air. Alkaptonuria is part of a group of conditions known as an inborn error of metabolism .
Alkaptonuria: Causes, Symptoms and Diagnosis - Healthline
2023年5月19日 · People with alkaptonuria also have urine that turns dark brown or black when it’s exposed to air. What are the symptoms of alkaptonuria? Dark stains on a baby’s diaper are one of the earliest...
Alkaptonuria - StatPearls - NCBI Bookshelf
2023年8月8日 · Alkaptonuria is an autosomal recessive disorder; familial genetic analysis shows no other affected member. The typical presentation of alkaptonuria is the darkening of the urine upon standing for longer time or dark urine stains on the diaper to the oxidation and polymerization of homogentisic acid; this could be the only feature suggestive of ...
Alkaptonuria | About the Disease | GARD - Genetic and Rare …
Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. The three major features of Alkaptonuria are the presence of dark urine, ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, and …