Crane-Heise syndrome is the medical term for a complex of malformations consisting mainly of insufficient ossification of the skull and aplasia of the vertebrae. The syndrome is due to a hereditary mutation, which is based on an autosomal recessive inheritance. The prognosis is unfavorable and the course is usually lethal. What is Crane-Heise syndrome? Crane-Heise … Crane-Heise Syndrome: Causes, Symptoms & Treatment
Treatment and therapy Meulengracht’s disease cannot be cured in principle, as the metabolic disorder is genetically inherited and congenital. In most cases, those affected manage well even without treatment and do not require therapy. In severe cases, the symptoms and gastrointestinal complaints can be treated with medication, although the side effects of the prescribed medication … Treatment and therapy | Meulengracht disease
Which drugs are involved in metabolization? In Meulengracht’s disease, the function of UDP-glucuronyltransferase is limited. Since the enzyme is important for the excretion of bilirubin as well as for the breakdown of other drugs, the disease can alter the effect of drugs and lead to undesired interactions. The drugs that are broken down by UDP-glucuronyltransferase … Which drugs are involved in metabolization? | Meulengracht disease
What effect does sport have on my disease and what kind of sport can I do? In general, people with Meulengracht’s disease are not physically impaired in any way and can practice any sport that suits them. Unfortunately, sport and physical activity do not contribute to a decrease in blood bilirubin levels. However, regular exercise … What effect does sport have on my disease and what kind of sport can I do? | Meulengracht disease
Synonyms Meulengracht disease Gilbert-Meulengracht disease Gilbert syndrome Definition – What is Meulengracht’s disease? Meulengracht’s disease (Gilbert-Meulengracht’s disease, Gilbert syndrome) is a harmless disease caused by a congenital metabolic disorder of the liver. The disease is inherited from parents to children. Due to a gene mutation, bilirubin, the breakdown product of the red blood cells, is … Meulengracht disease
What can be the accompanying symptoms of Meulengracht’s disease? Meulengracht’s disease is a relatively harmless disease that rarely manifests itself through symptoms. Patients may suffer from abdominal pain, which is mainly perceived as an unpleasant feeling of pressure in the right upper abdomen. In addition, indigestion, nausea and flatulence may occur. Other symptoms are depressive … What can be the accompanying symptoms of Meulengracht’s disease? | Meulengracht disease
Hailey-Hailey disease is an autosomal dominant inherited skin disorder. Individual areas of patients’ skin blister when exposed to external agents such as UV light. Invasive and drug therapies are available for treatment. What is Hailey-Hailey disease? Blistering of the skin can have a wide variety of causes. One possible cause is Hailey-Hailey disease. In this … Hailey-Hailey Disease: Causes, Symptoms & Treatment
Spinal muscular atrophy (SMA) is a group of disorders characterized by muscle wasting. SMA is caused by the death of motor nerve cells in the spinal cord. What is spinal muscular atrophy? The term progressive spinal muscular atrophy was coined by neurologist John Hoffmann in Heidelberg in 1893. Spinal muscular atrophies are diseases that result … Spinal Muscular Atrophy: Causes, Symptoms & Treatment
Ochronosis is a congenital metabolic disease whose damaging effects on health usually do not become apparent until middle age. Because of the initial lack of symptoms, the metabolic disease is rarely diagnosed in young children. What is ochronosis? The medical name ochronosis is derived from the color ochre, a shade of yellow. As ochronosis progresses, … Ochronosis: Causes, Symptoms & Treatment
What is Gaucher’s disease? Gaucher disease is a hereditary disease, i.e. a genetically transmitted disease in which fats are stored in unusual cells in the body. As a result, certain organs whose cells are affected are restricted in their function. Patients often show severe fatigue, blood anemia and enlargement of the liver and spleen. In … Gaucher disease
Classification according to severity Type I of Gaucher’s disease is also called “non-neuropathic form”. This means that no nerve damage occurs in this form. Here, the enzyme glucocerebrosidase is still working to a certain extent, so that the first problems occur in adulthood. These manifest themselves through enlargement of the spleen and liver. These organs … Classification according to severity | Gaucher disease
The treatment To directly address the cause of the disease, the patient must be supplied with the required enzyme. The therapy of Gaucher’s disease therefore consists in the administration of the enzyme by means of infusions through a venous access. This can be done, for example, once a month in a higher dosage or several … The treatment | Gaucher disease
