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.

May 19, 2023 · Alkaptonuria is a rare inherited disorder. It occurs when your body can’t produce enough of an enzyme called homogentisic dioxygenase (HGD). This enzyme is used to break down a toxic...

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 …

Alkaptonuria, or black urine disease, is a very rare inherited disorder that prevents the body fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine. It results in a build-up of a chemical called homogentisic acid in the body.

Alkaptonuria is an inherited condition that causes arthritis, kidney stones, spots of dark pigmentation, and dark urine. Ochronosis, a buildup of dark (blue-black) pigment in certain tissues, is a characteristic feature of alkaptonuria.

a class of substances with an affinity for alkali, sometimes found in the urine and causing the condition known as alkaptonuria. The urinary formation of alkaptons results from the incomplete oxygenation of tyrosine and phenylalanine. The compound commonly found, and most commonly referred to by the term, is homogentisic acid.

Jun 26, 2017 · Learn about Alkaptonuria, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find resources and.

Apr 21, 2024 · From German Alkapton, coined by Boedeker (1861) as "an admittedly somewhat barbaric combination" [1] of Alkali (“alkali”) + Ancient Greek κάπτον (kápton), neuter present participle of Ancient Greek κάπτω (káptō, “to gulp down”), after the tendency of alkapton to strongly react with oxygen in alkaline solution. alkapton (uncountable)

Apr 24, 2023 · 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. A defect in the HGD gene causes alkaptonuria. The gene defect makes the body unable to properly break down the amino acids tyrosine and phenylalanine.

Jan 18, 2023 · Alkaptonuria is a rare genetic disorder that affects how your body breaks down homogentisic acid, which leads to a buildup of the acid in your tissues. While there is currently no cure, there are treatments available that can help manage the symptoms.