April 21, 2025
Science

The strange disease that turns the whites in our eyes and bones like coal: Alkaptonuria

  • April 13, 2023
  • 0

Bones are white in color, but due to a number of ailments to change color it can crash. Although most of us are now hearing for the first

Bones are white in color, but due to a number of ailments to change color it can crash. Although most of us are now hearing for the first time that bones can change color, and it’s hard to believe, this is possible with “Black Bone” disease.

This condition, which affects only about 1% of the 250,000 to 1 million people worldwide, it can darken the color of our bones And besides, it can cause a lot of problems. So what is alkaptonuria and how does it occur?

Black bone disease is a very rare disease that prevents the body from completely breaking down two protein building blocks – amino acids – called tyrosine and phenylalanine.

Sensitive content

Alkaptonuria causes a chemical called homogentisic acid to build up in the body. causing the urine and parts of the body to turn a dark color and can cause other health problems over time.

Amino acids are normally broken down through a series of chemical reactions, but homogentisic acid, a substance produced along the way in Alkaptunuria, can no longer be broken down any further. The reason for this is the so-called proteins, which play a major role in bringing about chemical reactions. the failure of enzymes to work properly.

So how can hereditary black bone disease occur?

Sensitive content

Every cell in the human body contains 23 pairs of chromosomes and this structure carries genes inherited from parents. Each of the chromosome pairs is inherited from an individual. two copies of each gene in each cell has.

The gene involved in alkaptonuria is a gene called HGD, and the defective HGD for the development of this disease, one from each parent, is required. inherit two copies must. The chance of this happening is very small.

Because homogentisic acid causes the urine to turn black for a few hours on contact with air, the dark color of the baby’s diaper creates great awareness in detecting this condition.

If this sign is overlooked in a baby or child, the person is in their late twenties to early thirties. will show no other obvious symptoms. This inconvenience can go unnoticed.

This acid slowly accumulates in the tissues of the body over many years cartilage, nails, ears, bones and even the heart It tends to accumulate in almost every part of the body, including In this direction, tissues and parts of the body take on a dark color that is almost black.

At the age of 30, this disease manifests itself mainly with joint complaints.

In addition, typical lower back pain and stiffness in the lumbar region, knee, hip and shoulder pain can be seen, while cartilage, which is a hard and flexible tissue in the body, can become fragile and break. joint and spine damage leads to

People with this disease may develop brown or black spots in the white areas of their eyes, and thickening of the ear cartilage may be seen in this area. blue, gray or black it can be The earwax is also seen to be black, brown or red.

Black Bone disease not only causes these symptoms, but also causes visible changes on the skin.

While alkaptonuria can cause blue and black spots on some areas of the skin, it is noticeable in the spots on clothing. These changes in skin color in areas most exposed to the sun and where sweat glands predominate -especially the cheek, forehead, armpit and genital area- becomes prominent. Again, the color of the nails may appear bluish or brownish.

In this condition, if stiffness occurs in the bones and muscles around the lungs, this prevents the expansion of the chest. shortness of breath or trouble breathing can invite. Again, while many different heart conditions can occur due to many unpredictable reasons; kidney, bladder and prostate stones are among the most serious consequences of black bone.

This condition, which is more common in certain parts of Slovakia and the Dominican Republic, was seen in 2016 in an 8-year-old girl in Turkey.

Sensitive content

To slow the progression of this disease, drug treatment is practiced in adults, but Provides 100% effect cannot be said completely.

When encountered in childhood, a level of nutrition control is developed, with protein restriction effects are minimized. In addition, light exercise for all age groups can play a role in reducing pain at this point, as it will strengthen the joints by building new muscle.

Sources: Disability World, Kaplan Lab, NHS

Source: Web Tekno

Leave a Reply

Your email address will not be published. Required fields are marked *

Exit mobile version