gene defect

Medium-chain acyl-CoA Dehydrogenase Deficiency: Causes, Symptoms & Treatment

Medium-chain acyl-CoA dehydrogenase deficiency (MACD deficiency) represents a genetic metabolic disorder in which medium-chain fatty acids are insufficiently broken down. Under certain conditions, it can lead to dangerous metabolic derailments, which may be fatal. If therapy is started early, the disease can be well controlled. What is medium-chain acyl-CoA dehydrogenase deficiency? In medium-chain acyl-CoA dehydrogenase … Medium-chain acyl-CoA Dehydrogenase Deficiency: Causes, Symptoms & Treatment

Progressive Familial Intrahepatic Cholestasis: Causes, Symptoms & Treatment

The term progressive familial intrahepatic cholestasis is used to describe three cholestases that are very similar in appearance and can be distinguished from each other by different genetic defects. The diseases are inherited in an autosomal recessive manner and lead to a stasis of bile fluids in the body due to defectively encoded membrane transport … Progressive Familial Intrahepatic Cholestasis: Causes, Symptoms & Treatment

Thrombophilia: Causes, Symptoms & Treatment

Thrombophilia is when there is an increased tendency to blood clots (thromboses). It can be both congenital and acquired during life. What is thrombophilia? In thrombophilia, affected individuals tend to develop blood clots, or thromboses, in the blood vessels. This also carries the risk of embolism, which is due to the altered properties of blood … Thrombophilia: Causes, Symptoms & Treatment

Andersens Disease: Causes, Symptoms & Treatment

Andersen disease represents a particularly severe form of glycogen storage disease. It is a hereditary disease characterized by the formation of an abnormal glycogen. The prognosis of the disease is very poor. What is Andersen disease? In Andersen disease, storage of an abnormal form of glycogen occurs. This glycogen is similar in structure to amylopectin, … Andersens Disease: Causes, Symptoms & Treatment

G Protein: Function & Diseases

The term G proteins refers to an inhomogeneous group of proteins that can bind the nucleotides guanosine diphosphate (GDP) and guanosine triphosphate (GTP). They perform a critical function in the transduction and “translation” of extracellular signals into and within the cell. Membrane-bound, heterotrimeric G proteins are the mediators between the extracellular and intracellular space, and … G Protein: Function & Diseases

Epidermodysplasia Verruciformis: Causes, Symptoms & Treatment

Epidermodysplasia verruciformis is a disease of the skin that is present in patients from birth. In the context of epidermodysplasia verruciformis, a so-called generalized verrucosis develops in a very extreme form. Epidermodysplasia verruciformis is extremely rare and increases the risk of developing skin cancer. In addition, the skin of affected individuals is particularly sensitive to … Epidermodysplasia Verruciformis: Causes, Symptoms & Treatment

Lymphangioleiomyomatosis: Causes, Symptoms & Treatment

Lymphangioleiomyomatosis is a severe and very rare lung disease that affects almost exclusively women. Because of its nonspecific symptoms, the disease is usually recognized late or misdiagnosed, so it is not always treated properly. What is lymphangioleiomyomatosis? Lymphangioleimyomatosis is one of the rare lung diseases. It is caused by a spontaneously acquired or inherited genetic … Lymphangioleiomyomatosis: Causes, Symptoms & Treatment

Multiple Pterygium Syndrome: Causes, Symptoms & Treatment

Multiple pterygium syndrome is present in patients with numerous airskin-like folds of mucosa or skin. Several forms are distinguished. No causal therapy exists to date. What is multiple pterygium syndrome? “Pterygium” literally translates as “wing fur.” This medical term refers to a physical abnormality that is manifested by folds of skin and mucous membrane similar … Multiple Pterygium Syndrome: Causes, Symptoms & Treatment

Cones: Structure, Function & Diseases

Cones are the photoreceptors on the retina of the eye responsible for color and sharp vision. They are highly concentrated in the yellow spot, the area of color vision and also the area of sharpest vision. Humans have three different types of cones, each of which has its maximum sensitivity in the blue, green, and … Cones: Structure, Function & Diseases

Fanconi-Bickel Syndrome: Causes, Symptoms & Treatment

Fanconi-Bickel syndrome is a disorder in which glycogen storage is impaired. The disease is very rare and is synonymously referred to as glycogenosis type XI or Bickel-Fanconi glycogenosis. The disease is due to a defect on the gene ‘GLUT-2’. What is Fanconi-Bickel syndrome? In Fanconi-Bickel syndrome, glycogen storage in the kidneys and liver is impaired. … Fanconi-Bickel Syndrome: Causes, Symptoms & Treatment