Question

What Is alkaptonuria?

Answer 1

Heredity is built on the foundation of genes. They are passed down from one generation to the next. They contain DNA, which contains the instructions for producing proteins. In cells, proteins do the majority of the work. They transport molecules from one location to another, construct structures, break down poisons, and perform a variety of other maintenance tasks. A mutation, or alteration in a gene or genes, occurs from time to time. The mutation alters the gene's instructions for producing a protein, causing the protein to malfunction or go missing completely. This can result in a genetic disorder, which is a medical problem.

Complete answer:
Alkaptonuria, also known as black urine illness, alkaptonuria, and black bone disease, is one of four ailments identified by Archibald Garrod in his 1902 Croonian Lectures as an inborn metabolic mistake. When urine is left standing, it turns black, which is a symptom of the condition.

The accumulation of homogentisic acid in the body is a symptom of alkaptonuria, a rare inherited metabolic condition. Individuals with the condition don't have enough of an enzyme needed to break down homogentisic acid. When exposed to air, people with this condition may have dark urine or urine that turns black. This alteration, however, may not appear for several hours after urination and frequently goes unreported.

The homogentisate 1,2-dioxygenase (HGD) gene mutation causes alkaptonuria. The homogentisate 1,2-dioxygenase gene includes instructions for making (encoding) the enzyme homogentisate 1,2-dioxygenase. The degradation of homogentisic acid requires this enzyme. Defective levels of functional homogentisate 1,2-dioxygenase result from HGD gene mutations, resulting in an excess of homogentisic acid.

Note: The initial indications and symptoms of alkaptonuria usually appear around the age of 30 and are caused by a prolonged buildup of homogentisic acid in connective tissue, particularly cartilage. Ochronosis is a disorder in which connective tissue, such as cartilage, turns blue, grey, or black as a result of the prolonged accumulation of homogentisic acid.