Homogentisic Acid

Homogentisic Acid is a substance formed during the metabolism of the amino acids phenylalanine and tyrosine. In normal, healthy individuals, homogentisic acid is oxidized by the enzyme homogentisic acid oxidase. In rare cases, there is a deficiency of this enzyme in the body (this disease is called alkaptonuria); in this case, a large amount of homogentisic acid is excreted from the body in the urine.

Homogentisic Acid: Role in metabolism and alkaptonuria

Introduction:
Homogentisic acid (HA), also known as homogentisic acid, is an important metabolite formed during the metabolism of the amino acids phenylalanine and tyrosine. A normally functioning body possesses an enzyme known as homogentisic acid oxidase, which oxidizes HA. However, some people are deficient in this enzyme, resulting in a rare inherited disease known as alkaptonuria.

Role in metabolism:
Under normal conditions, HA is an intermediate product of the metabolism of phenylalanine and tyrosine. Once formed, HA continues to undergo further metabolic processes, resulting in the formation of other substances involved in the normal functioning of the body. One of the main pathways of HA formation is associated with disturbances in the metabolism of phenylalanine and tyrosine, which can be caused by hereditary factors or disturbances in enzymatic activity.

Alkaptonuria:
Alkaptonuria is a rare genetic disease characterized by deficiency of the enzyme homogentisic acid oxidase, responsible for the oxidation of HA. As a result of this deficiency, large amounts of HA accumulate in the body and are excreted in the urine. The cause of enzyme deficiency may be due to inherited mutations that affect its activity or structure.

The main symptoms of alkaptonuria:
The main signs of alkaptonuria are changes in the color of urine and the deposition of pigment in various tissues of the body. The urine of patients with alkaptonuria turns dark brown or black when oxidized in air due to the presence of HA and its oxidized products. Pigment deposition can result in a blue or black appearance in cartilage and connective tissues, as well as in the skin and sclera of the eyes.

Complications and treatment:
Podological changes, arthritis and renal failure are typical complications of alkaptonuria. However, symptoms and severity of the disease may vary between patients. There is currently no specific treatment for alkaptonuria, however symptomatic treatment can be provided to relieve symptoms and manage complications. This includes monitoring the condition of the joints, using painkillers, physical

Homogentizic Acid is one of the metabolites of the amino acid tyrosine and phenylalanine in the human body. It is not synthesized in the intestine from these amino acids and then transported to the liver. as well as other organs and tissues. Homogenicic acid is involved in enzymatic reactions of lipids and proteins in the human body. This substance can also be formed as a by-product of the metabolism of various drugs.