Definitions for alkaptonuria
alka·p·tonuri·a

Princeton's WordNetRate this definition:0.0 / 0 votes

1. alkaptonuria, alcaptonurianoun

   a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine

WiktionaryRate this definition:0.0 / 0 votes

1. alkaptonurianoun

   A rare inherited genetic disorder of phenylalanine and tyrosine metabolism, causing the accumulation and eventual excretion of alkapton.

WikipediaRate this definition:0.0 / 0 votes

1. Alkaptonuria

   Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5); if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. 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 other organs. Symptoms usually develop in people over 30 years old, although the dark discoloration of the urine is present from birth. Apart from treatment of the complications (such as pain relief and joint replacement for the cartilage damage), the drug nitisinone has been found to suppress homogentisic acid production, and research is ongoing as to whether it can improve symptoms. Alkaptonuria is a rare disease; it occurs in one in 250,000 people, but is more common in Slovakia and the Dominican Republic.

ChatGPTRate this definition:0.0 / 0 votes

1. alkaptonuria

   Alkaptonuria is a rare genetic disorder characterized by the absence of an enzyme that helps break down two specific amino acids, leading to an accumulation of a substance called homogentisic acid in the body. This chemical build up is excreted in urine, causing it to darken upon exposure to air. Other symptoms include darkening of the ear and eye, joint pain, and heart problems. The condition is inherited, following an autosomal recessive pattern.

WikidataRate this definition:0.0 / 0 votes

1. Alkaptonuria

   Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase, which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide, called alkapton, accumulate in the blood and are excreted in urine in large amounts. Excessive homogentisic acid causes damage to cartilage and heart valves as well as precipitating as kidney stones. Treatment with nitisinone, which suppresses homogentisic acid production, is being studied. Alkaptonuria is more common in Slovakia and the Dominican Republic than in other countries.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Alkaptonuria

   An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.

Matched Categories

1. • Metabolic Disorder

How to pronounce alkaptonuria?

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Numerology

1. Chaldean Numerology

   The numerical value of alkaptonuria in Chaldean Numerology is: 5

2. Pythagorean Numerology

   The numerical value of alkaptonuria in Pythagorean Numerology is: 4

References

1. ^ Princeton's WordNet
   http://wordnetweb.princeton.edu/perl/webwn?s=alkaptonuria
2. ^ Wiktionary
   https://en.wiktionary.org/wiki/Alkaptonuria
3. ^ Wikipedia
   https://en.wikipedia.org/wiki/Alkaptonuria
4. ^ ChatGPT
   https://chat.openai.com
5. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=alkaptonuria