Myotonia congenita Becker belongs to the general group of so-called myopathies (muscle diseases). It is characterized by delayed establishment of the resting membrane potential after a muscle contraction. That is, muscle tone decreases only slowly. What is myotonia congenita Becker? Myotonia congenita Becker is a muscle disorder (myopathy) that belongs to the special group of … Myotonia Congenita Becker: Causes, Symptoms & Treatment
In malabsorption syndrome, the patient’s intestines do not adequately absorb certain or all nutrients from food into the bloodstream, resulting in nutrient deficiency. Malabsorption characterizes many congenital intestinal diseases and intolerances to certain foods. In addition to dietary measures and treatment of the underlying disease, malabsorption syndrome usually involves substitution of nutrients by infusion. What … Malabsorption Syndrome: Causes, Symptoms & Treatment
Tyrosinemias are characterized by elevated blood concentrations with the amino acid tyrosine. All forms of the disease have genetic causes. Type I tyrosinemia, in particular, leads to early death if left untreated. What is tyrosinemia? Tyrosinemia is a genetically caused degradation disorder of the amino acid tyrosine that leads to an increase in the concentration … Tyrosinemia: Causes, Symptoms & Treatment
If the medical profession speaks of a urea cycle defect, it uses an encroachment that predominantly affects several metabolic diseases, which on the one hand have a genetic origin and on the other hand are responsible for a disturbed nitrogen excretion. If left untreated, the urea cycle defect leads to the death of the patient. … Urea Cycle Defect: Causes, Symptoms & Treatment
The term storage disease refers to a group of diseases characterized by deposits of various substances in organs or cells. Storage diseases include lipidoses or hemosideroses, for example. What is storage disease? Storage diseases can occur in different forms and manifestations. However, all diseases have in common that substances are stored in cells and organs. … Storage Disease: Causes, Symptoms & Treatment
Porphyria is a group of rare metabolic disorders with multiple manifestations. Porphyria can be acute or chronic, cause minor or life-threatening symptoms, and affect a wide variety of organs. The diagnosis is therefore often not easy to make. Learn more about the causes, symptoms, diagnosis, and treatment of porphyria here. How does porphyria develop? As … Porphyria: Enzyme Defect with Consequences
Definition – What is Fabry’s disease? Fabry disease (Fabry syndrome, Fabry disease or Fabry-Anderson disease) is a rare metabolic disease in which an enzyme defect is caused by a gene mutation. The consequence is a reduced breakdown of metabolic products and their increased storage in the cell. As a result, the cell is damaged and … Fabry’s disease
Associated symptoms Fabry’s disease is a disease that affects several organ systems at the same time. It is known as a multi-organ disease. The accompanying symptoms are correspondingly different. Among the most common ones are: Pain in the hands and feet Burning pain in the tips of the body (acres): nose, chin, ears Changes in … Associated symptoms | Fabry’s disease
How does Fabry’s disease affect life expectancy? Fabry’s disease is a serious disease that causes severe damage to the kidneys, heart and brain at an early age. Due to the reduced enzyme activity, fats are deposited in the blood vessels and organs, causing the organs to become increasingly damaged and eventually lose their function completely. … How does Fabry’s disease affect life expectancy? | Fabry’s disease
What is Fabry’s disease? Fabry disease (Fabry syndrome, Fabry disease or Fabry-Anderson disease) is a rare metabolic disease in which an enzyme defect is caused by a gene mutation. The consequence is a reduced breakdown of metabolic products and their increased storage in the cell. As a result, the cell is damaged and dies. As … Fabry’s disease symptoms, causes and treatment
The diagnosis Fabry disease is not always easy to diagnose, and patients often have a long history of suffering before symptoms can be attributed to Fabry disease. It often takes several years for a doctor to make the correct diagnosis. If Fabry disease is suspected, the doctor makes the diagnosis by means of a series … The diagnosis | Fabry’s disease symptoms, causes and treatment
Fatty liver of pregnancy is a serious complication that can be potentially life-threatening to both mother and baby. What causes fat to be stored in the liver cells of pregnant women is currently unclear. Treatment consists of terminating the pregnancy promptly. In most cases, the liver regenerates completely in the weeks after birth. What is … Fatty Liver of Pregnancy: Causes, Symptoms & Treatment
