Syndrome is also very rare. Inherited by autosomal recessive type, while men and women get sick with the same frequency. In case of development of this pathology, it is possible to notice atro...

These drugs are used to treat type II diabetes mellitus. For their use, there are contraindications, such as: acute complications of diabetes mellitus, severe liver and kidney damage with impaire...

Ehlers-Danlos Syndrome combines a large group of hereditary connective tissue lesions. The first obvious case of this syndrome was first described in 1682 by a surgeon from Amsterdam, who observe...

Insulin is a hormone consisting of amino acids. Pancreatic cells produce proinsulin, which is inactive. As a result of the action of enzymes, an active insulin is formed. It enters the bloodst...

Patau syndrome is a hereditary disease, the frequency of its occurrence among newborns is 1 per 5000-7000.The ratio of boys and girls in this disease is 50 to 50%.Quite often, in 50% of case...

The disease was first described in 1962. According to the 1983 data, only about 510 cases of this metabolic disease are described in the literature. The deficiency of ornithine transcarbamylas...

Hepatocerebral dystrophy( Wilson-Konovalov's disease) is a disease that develops as a result of excessive accumulation in the body and toxic effects of copper. This pathology is characterized by ...

Homocystinuria is a genetically determined violation of the metabolism of the sulfur-containing amino acid methionine. For the first time this disease was described in 1962. Homocystinuria occ...

This type of phenylketonuria is atypical. For the first time, atypical phenylketonuria was described in 1974. The disease is transmitted by an autosomal recessive type. The difference of this ...

Classical phenylketonuria was described in 1934. The disease is transmitted by an autosomal recessive type. The basis of phenylketonuria is the deficiency of the enzyme, which ensures the conv...

Hereditary diseases of amino acid exchange occupy a special place in the huge variety of genetically determined diseases of childhood. Manifestations of this disease do not occur immediatel...

Among hereditary human diseases one of the most significant places is occupied by hereditary metabolic diseases. This is a fairly large group of diseases, which includes about 700 different disea...

Galactosemia is a hereditary disease in which the process of converting galactose to glucose is disrupted. Galactose and the products of its metabolism accumulate in the cells of the human bod...

Hereditary disease of lipid metabolism, in which there is accumulation of sphingomyelin substance in the brain, liver and some other organs. This disease was first described by Niman in 1914. ...

According to the World Health Organization, up to 15% of children are born with obvious signs of various developmental anomalies. However, congenital anomalies may appear later, so the overall...

Violation of the functions of sulfur and sebaceous glands( reduced or increased their function), located at the base of the ear canal, promotes dryness or the formation of sulfur plugs in the ...

Its main manifestation is the slow development of the child and premature aging, which develops in childhood. It is assumed that progeria can be inherited in two types: both autosomal recessiv...

This syndrome is quite rare. Werner's syndrome is inherited in the autosomal recessive type. A characteristic sign of the disease, as well as the previous one, is premature aging, the appearan...