Hydroxylysine: Function & Diseases

Hydroxylysine is a nonclassical proteinogenic amino acid. It is incorporated into the corresponding protein as lysine and hydrolyzed to hydroxylysine within the polypeptide with the help of an enzyme. It represents one of the main components of collagen proteins of connective tissue. What is hydroxylysine? Hydroxylysine is a proteinogenic amino acid that is first incorporated … Hydroxylysine: Function & Diseases

Keratoconus: Causes, Symptoms & Treatment

Keratoconus is a progressive thinning and deformation of the cornea of the eye (cornea). A cone-shaped protrusion of the cornea takes place. Keratoconus is often accompanied by other diseases and, in some cases, genetic disorders. What is keratoconus? Keratoconus is characterized by the cone-shaped deformation and thinning of the cornea of the eye. Both eyes … Keratoconus: Causes, Symptoms & Treatment

Weakness of Connective Tissue: Causes, Symptoms & Treatment

Connective tissue weakness manifests itself in various, visually more or less visible impairments of a normal and attractive skin appearance. Connective tissue weakness can occur at a young age or only at an advanced age. What is connective tissue weakness? Schematic diagram showing the anatomy and structure of the skin with and without cellulite. Click … Weakness of Connective Tissue: Causes, Symptoms & Treatment

Hypermobility Syndrome: Causes, Symptoms & Treatment

Hypermobility syndrome (HMS) is characterized by excessive flexibility of the joints caused by congenital connective tissue weakness. Little is known about the cause of the condition. Quality of life is particularly limited by chronic pain in the joints. What is hypermobility syndrome? Hypermobility syndrome is a connective tissue weakness that leads to unusual overmovement of … Hypermobility Syndrome: Causes, Symptoms & Treatment

Lysylhydroxylases: Function & Diseases

Lysylhydroxylases represent a group of enzymes responsible for the hydroxylation of lysine residues within proteins. Thus, they mainly participate in the formation of connective tissue. Disturbances in the function of lysylhydroxylases manifest themselves in such diseases as scurvy or hereditary Ehlers-Danlos syndrome. What are lysylhydroxylases? Lysylhydroxylases are enzymes whose function is to catalyze the posttranslational … Lysylhydroxylases: Function & Diseases

Acrogeria: Causes, Symptoms & Treatment

Acrogeria is also known as Gottron syndrome and is characterized by a complex of predominantly dermal symptoms including atrophy and telangiectasia. The disease is based on a mutation in gene COL3A1, which interferes with the biosynthesis of type III collagen. Therapy to date has been purely symptomatic. What is acrogeria? The disease is apparently one … Acrogeria: Causes, Symptoms & Treatment