What are hereditary diseases?

Canavan disease is a genetically determined pathology of a neurodegenerative nature, which is characterized by insufficient production of the enzyme aspartate acylase, which leads to the development of demyelination of the nerve fibers of the brain.

Huntington's disease or Huntington's chorea is a hereditary, congenital disease that manifests itself in jerky movements (chorea) and restless behavior. Over time, the disease leads to personality degradation, feeblemindedness, and a complete lack of intelligence.

Hemochromatosis of the liver is a genetic (less often acquired) disease that is characterized by a metabolic disorder, which is accompanied by increased absorption of iron in the gastrointestinal tract.

Glycogenoses are a group of hereditary enzymopathies that arise due to a lack of enzymes that catalyze the processes of decay or synthesis glycogen (polysaccharide), characterized by its increased amount in organs and tissues. Enzymes are necessary for the conversion of sugar into glycogen, because it is in this form that it is stored in the body, then the latter is processed into glucose, which is used as energy.

Marble disease (MD) is a rare hereditary disease belonging to the group of mesenchymal skeletal dysplasias, which is based on a violation of bone resorption.

Neurofibromatosis is a hereditary disease that manifests itself in the form of significant tissue damage by neoplasms. Most often, the skin is affected, but sometimes tumors appear on the bones. Statistics show that the disease (type one) affects an average of one newborn per 3-3.5 thousand. Another name is Recklinghausen's disease.

Porphyria or porphyrin disease, porphyrin is a hereditary pathology of pigment metabolism with an excessive amount of porphyrins in the blood and tissues, as well as their increased excretion in urine and feces

Bartter syndrome (BS) is a rare genetically determined disease, accompanied by damage to the renal tubules, manifested by the proliferation of the juxtaglomerular apparatus, increased secretion of renin and aldosterone.

Cri du chat syndrome is a hereditary disease, the peculiarity of which is that the cry of a child resembles the cry of a cat.

Marfan syndrome is a hereditary disease related to the autosomal dominant type of inheritance (classical Mendelian inheritance) and is manifested by various disorders of connective tissue. Characterized by varying expressivity and penetrance.

Refsum syndrome is a fairly rare disease of hereditary etiology, which is characterized by the accumulation of phytanic acid (a product of fat breakdown) in tissues.

Phenylketonuria (PKU) is a congenital disease that occurs due to a metabolic disorder of the amino acid phenylalanine. It is most common in girls and leads to damage to the central nervous system.