Alkaptonuria
Overview
Alkaptonuria (black urine disease or alcaptonuria) is a rare inherited genetic disorder of tyrosine metabolism.
Alkaptonuria
National Organization for Rare Disorders, Inc.
Important
It is possible that the main title of the report Alkaptonuria is not the name you expected.
Alkaptonuria
Alternate Names : AKU, Alcaptonuria, Homogentisic acid oxidase deficiency, Alcaptonuric ochronosis
Definition ...
Alkaptonuria
By Margaret Alic PhDThe Gale Group Inc., Gale.. Gale Encyclopedia of Genetic Disorders Part I, 2002more »
Definition ...
Alkaptonuria
Arthritis »
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What is alkaptonuria?
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.
Alkaptonuria is inherited, which means it is passed down from parents to their children. To get this disease, each of your parents must pass you a copy of the faulty HGD gene.
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Alkaptonuria Symptoms ...
Alkaptonuria is a rare condition in which a person's urine turns a dark brownish-black color when exposed to air.
See also: Inborn error of metabolism
Causes ...
Alkaptonuria
Due to deficiency of homogentisic acid oxidase with features of ochronosis - pigmentation of articular cartilage, early osteoarthritis and calcification of intervertebral discs. Urine turns dark on standing.
Alkaptonuria: A genetic metabolic disorder due to deficiency of the enzyme homogentisic acid (HGA) dioxygenase.
Alkaptonuria
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Alkaptonuria
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Alkaptonuria: A rare disorder where the abnormal accumulation of a particular acid (homogentisic acid) in the body causes connective tissue and bone damage. This damage gives tissues a dark or bluish discoloration.
Alcaptonuria (alternate spelling for Alkaptonuria)
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Alkaptonuria
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I suggest you ask your GP to refer you to be tested for a genetic condition called alkaptonuria. Look it up, black bones and lower back problems from age 30-40 onwards.
good luck.
Report this content as offensive or unsuitable comment id 13208 ...
The 4 inborn errors of metabolism that he considered were albinism, alkaptonuria, pentosuria, and cystinuria. (Garrod's father also discovered a key abnormality in metabolism: the presence of uric acid in the urine of people with gout).
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OCD - Obsessive-Compulsive Disorder
OCD (Obsessive Compulsive Disorder (OCD))
Ochronosis (Alkaptonuria)
OCPs - Oral Contraceptives ...
 See also: Deficiency, Symptom, Cancer, Albinism, Ochronosis
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