What is Gangliosidosis GM2 Type II (Sandhoff Disease)? Gangliosidosis GM2 type II (Sandhoff’s Disease) is a hereditary disease from the group of gangliosidosis. Causes of Gangliosidosis GM2 Type II (Sandhoff Disease) Sandhoff’s disease (GM2-gangliosidosis, type
Continue readingWhat is Gangliosidosis GM1 Type I? GM1-gangliosidosis type I (generalized familial gangliosidosis, neurovisceral lipidosis, b-galactosidase deficiency) is characterized by an autosomal recessively inherited deficiency of the enzyme GM1-b-galactosadase. The activity of this enzyme in the
Continue readingWhat is Molybdenum Deficiency? Molybdenum is an element of the VI group of the periodic system; at. n – 42, at. m. – 96. The name comes from the Greek. molybdos (lead). Highlighted by P.
Continue readingWhat is Iron Deficiency? Anemia is an iron deficiency in the body. Anemia, or anemia, is a pathological condition characterized by a decrease in hemoglobin concentration and, in the vast majority of cases, the number
Continue readingWhat is Lactacidemic Coma? Lactacidemic coma is associated with the highest mortality rate – mortality can reach 80%. The state of lactic acidosis can be ascertained when the level of lactic acid in the blood
Continue readingWhat is Kwashiorkor? Kwashiorkor is a type of severe dystrophy. The disease usually occurs in children 1-4 years old, although it happens that it occurs at an older age (for example, in adults or in
Continue readingWhat is Dwarfism (Stunting)? Dwarfism (short stature, pituitary dwarfism) is a disease characterized by stunted growth and physical development. Dwarf consider growth of an adult man below 130 cm, adult women – below 120 cm.
Continue readingWhat is Magnesium Deficiency? In recent years, close attention of researchers in various fields of clinical medicine has been attracted to the problem of magnesium deficiency and its role in the formation of various pathological
Continue readingWhat is Type I Glycogenosis (Girke’s Disease)? Type I glycogenosis is a disease described by Girke in 1929, but Cory only discovered the enzyme defect in 1952. Type I glycogenosis occurs in 1 out of
Continue readingWhat is Gaucher Disease (Glucocerebroside Lipidosis, Glucocerebrosidosis)? Gaucher disease (glucocerebrosid lipidosis, glucocerebrosidosis) is one of the most frequent inherited disorders of glycolipid metabolism. It is believed that Gaucher disease is based on allelic mutations of
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