I-cell disease is a lyosomal mucolipidosis. The storage disease is caused by a mutation of the GNPTA gene with gene locus q23.3 on chromosome 12. Symptomatic treatment is mainly by administration of bisphosphonates. What is I-cell disease? Storage diseases are characterized by the deposition of various substances in cells and organs of the human body. … I-cell Disease: Causes, Symptoms & Treatment
Dilated cardiomyopathy describes a form of heart muscle disease in which the left ventricle in particular becomes dilated. Affected individuals suffer from cardiac arrhythmias and heart failure. In most cases, it is not possible to cure dilated cardiomyopathy, but only to alleviate the symptoms. What is dilated cardiomyopathy? Dilated cardiomyopathy is a heart muscle disease. … Dilated Cardiomyopathy: Causes, Symptoms & Treatment
The medical profession refers to hyper-IgD syndrome – also known as HIDS – as a hereditary disease that is predominantly characterized by recurrent episodes of fever. For this reason, hyper-IgD syndrome also belongs to the so-called periodic fever syndromes. During the fever episodes, the affected persons complain, among other things, of diarrhea, abdominal pain, and … Hyper IgD Syndrome: Causes, Symptoms & Treatment
Monoclonal gammopathy is a hematologic disorder. It is characterized by the excessive occurrence of monoclonal antibodies. Monoclonal gammopathy affects the functioning of the immune system and can lead to anemia, hypercalcemia, blood sedimentation, hyper- or hypogammaglobulinemia, and renal insufficiency, among other symptoms. What is monoclonal gammopathy? Monoclonal gammopathy is a hematologic disorder that has effects … Monoclonal Gammopathy: Causes, Symptoms & Treatment
Diffuse esophageal spasm is the term used by experts to describe a mostly chronic movement disorder of the esophagus. In technical language, this disorder is called ‘motility disorder. In this case, there are repeated seizure-like muscle contractions of the esophagus, and pain may also occur at the sternum. The exact causes of diffuse esophageal spasm … Diffuse Esophageal Spasm: Causes, Symptoms & Treatment
Hepatosplenomegaly is the medical term for a simultaneous enlargement of the spleen and liver. A wide variety of causes may underlie this symptom combination, including infectious associations or hereditary storage diseases. Treatment of the symptoms depends on the primary disease. What is hepatosplenomegaly? Hepatosplenomegaly is not a disease itself. Rather, it is the symptom of … Hepatosplenomegaly: Causes, Symptoms & Treatment
Liver transplantation is necessary for severe liver disease when conservative measures are no longer successful. In this procedure, a healthy liver is implanted in the abdomen of the diseased person and his or her immune system is then suppressed so that the transplant is not rejected. What is a liver transplant? Infographic on the anatomy … Liver Transplantation: Treatment, Effects & Risks
Anhidrosis refers to decreased productivity of the sweat glands. This can be caused by illness, medication or skin injury. People with anhidrosis are prone to dangerous overheating. The opposite of anhidrosis is hyperhidrosis. What is anhidrosis? People with anhidrosis are unable to perspire normally. Perspiration, however, is necessary for the body to cool itself. Otherwise, … Anhidrosis: Causes, Symptoms & Treatment
Tongue swelling usually occurs as a result of an allergic reaction to food, medications, or insect bites, or in association with genetic angioedema. A pronounced allergic reaction can condition tongue swelling, which causes life-threatening narrowing of the upper airway. What is tongue swelling? Tongue swelling is not understood as a disease entity in its own … Tongue Swelling: Causes, Treatment & Help
Protein metabolism is a vital process in the human body. It is responsible for the uptake, buildup, breakdown, and removal of proteins. Proteins are the building blocks of human cells. If the metabolism does not run smoothly, a so-called metabolic disorder is present. The most common protein metabolism disorder in newborns is phenylketonuria. What is … Protein Metabolism: Function, Tasks, Role & Diseases
Transthyretin represents a transport protein for thyroid hormones found in all vertebrates. It is synthesized in the liver and in specific areas of the brain. Specific genetic alterations in transthyretin can lead to amyloidosis type 1 or ATTR amyloidosis. What is transthyretin? Transthyretin (TTR) is one of the transport proteins. Along with thyroxine-binding globulin (TBG), … Transthyretin: Structure, Function & Diseases
Amyloidosis refers to a pathological accumulation of proteins in the spaces between cells. Amyloidosis itself is not a disease; rather, various diseases are caused by it. Amyloidosis can only be detected by cytological examination of a tissue sample. It affects almost exclusively older patients around the age of 65. Amyloidosis is only rudimentarily treatable and … Amyloidosis: Causes, Symptoms & Treatment
