How does alkaptonuria affect the human body?

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Alkaptonuria, sometimes known as "black urine illness," is a rare genetic disorder in which the body is unable to fully break down two protein building blocks (amino acids) known as tyrosine and phenylalanine.

It causes the body to accumulate a substance called homogentisic acid. This can stain urine and other regions of the body, causing a variety of problems over time. In most cases, amino acids are broken down by a sequence of chemical processes. However, with alkaptonuria, a chemical created along the way, homogentisic acid, is incapable of further breakdown.

This is due to a malfunction of the enzyme that typically breaks it down. Proteins are called enzymes to catalyze chemical processes. Dark-stained nappies are one of the first indicators of the disease, as homogentisic acid causes urine to turn black when exposed to air for a few hours.If this symptom is missed or ignored, the disorder may continue undiscovered until maturity, as there are usually no other symptoms until the person is in their late twenties or early thirties.

Adult signs and symptoms

Homogentisic acid progressively accumulates in tissues throughout the body over many years.

It can form in practically any physical part, including cartilage, tendons, bones, nails, ears, and the heart. It darkens the tissues and creates a variety of complications.

Bones and joints

When a person with alkaptonuria reaches their twenties or thirties, they may have joint difficulties.

Lower back pain and stiffness are common, followed by knee, hip, and shoulder pain. These are some of the first signs of osteoarthritis. Cartilage, a robust, flexible tissue present all over the body, can become brittle and shatter over time, causing joint and spinal damage. Joint replacement is a common occurrence.

Senses of hearing and sight

The thickening and blue-black discoloration of the ear cartilage is an evident symptom of alkaptonuria in adults. This is referred to as ochronosis.Earwax can be black or reddish-brown in color. Brown or grey patches appear on the skin in a large number of persons.

Nails and skin

Alkaptonuria can create discolored sweat, which can stain garments and cause blue or black speckled skin in some persons. The color of your nails may also change to a bluish hue. The variations in skin color are especially noticeable in areas that are exposed to the sun and have sweat glands, such as the cheeks, forehead, armpits, and genital area.

Having trouble breathing

Shortness of breath or trouble breathing can result if the bones and muscles surrounding the lungs become rigid, preventing the chest from expanding.

Problems with the heart, kidneys, and prostate

Homogenetic acid deposits around heart valves can cause them to stiffen, become brittle, and turn black. Weakened blood vessels can also occur. Kidney stones, bladder stones, and prostate stones can all be caused by deposits.

How alkaptonuria is passed down

There are 23 pairs of chromosomes in each cell in the body. These are the cells that carry the DNA that you inherited from your parents. With the exception of the sex chromosomes, one of each pair of chromosomes is inherited from each parent, resulting in two copies of each gene in each cell. The HGD gene is responsible for alkaptonuria. This gives instructions for building a homogentisate oxidase enzyme, which is required for the breakdown of homogentisic acid. To acquire alkaptonuria, you must inherit two copies of the defective HGD gene (one from each father). A person with alkaptonuria's parents usually only have one copy of the defective gene, which means they will not show any signs or symptoms of the disease.

How is alkaptonuria treated?

Alkaptonuria is a chronic illness for which there is presently no medication or cure.However, a drug called nitisinone has shown promise, and medications and a change in lifestyle may help you manage the symptoms.

To manage alkaptonuria get expert advice now at just Rs 100/-

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