1) Alcaptonuria 2) Metabolic disorder
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https://www.crosswordclues.com/clue/alkaptonuria
1) Alcaptonuria
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https://www.crosswordclues.com/clue/alkaptonuria
Alkaptonuria (black urine disease, black bone disease, or alcaptonuria) is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein. It is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase ({EC number|1.13.11.5}); if a person inherits abnor...
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http://en.wikipedia.org/wiki/Alkaptonuria
rather rare (one in 200,000 births) inherited disorder of protein metabolism characterized by an inability of the body to metabolize the amino acids ... [5 related articles]
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http://www.britannica.com/eb/a-z/a/47
<biochemistry> Congenital absence of homogentisic acid oxidase, an enzyme that breaks down tyrosine and phenylalanine. Accumulation of homogentisic acid in homozygotes causes brown pigmentation of skin and eyes and damage to joints, urine blackens on standing. ... Origin: Gr. Ouron = urine ... (18 Nov 1997) ...
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(al-kap″to-nu´re-ә) an autosomal recessive aminoacidopathy characterized by accumulation of homogentisic acid. It is manifested by elevated concentrations of homogentisic acid in the urine (which darkens on standing or with alkalinization), a peculiar discoloration of body tissues known as ochronosis, and ar...
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http://www.encyclo.co.uk/local/21001
Congenital absence of homogentisic acid oxidase, an enzyme that breaks down tyrosine and phenylalanine. Accumulation of homogentisic acid in homozygotes causes brown pigmentation of skin and eyes and damage to joints; urine blackens on standing.
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Our Alkaptonuria Main Article provides a comprehensive look at the who, what, when and how of Alkaptonuria Alkaptonuria: A genetic metabolic disorder due to deficiency of the enzyme homogentisic acid (HGA) dioxygenase. Deficiency of this enzyme leads to the three cardinal features of alkaptonuria --the presence of homogentisic acid in the urine, oc...
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http://www.medterms.com/script/main/art.asp?articlekey=39942
[
n] - a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
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http://www.webdictionary.co.uk/definition.php?query=alkaptonuria
alcaptonuria noun a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
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https://www.encyclo.co.uk/local/20974
excessive excretion of homogentisic acid in the urine, caused by a hereditary abnormality of the metabolism of tyrosine and phenylalanine.
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https://www.infoplease.com/dictionary/alkaptonuria
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