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Homocystinuria is a rare, genetic metabolic disorder that can be traced back to an enzyme deficiency and is characterized by an increased concentration of homocysteine in the blood. As part of an early and consistent
Pancreatic insufficiency is a disease that plays a major role in internal medicine. Insufficiency always conceals a limitation of the functionality of an organ or an organ system.
Hyperammonaemia is characterized by an increased concentration of ammonia in the blood. Congenital defects of the urea cycle and certain enzymes as well as severe liver diseases are possible causes. Left untreated, the disorder can become too
Under the TAR syndrome, English Thrombocytopenia-Absent Radius Syndrome, medicine understands a malformation syndrome, the main symptoms of which include the failure of the spokes and thrombocytopenia. The cause of the syndrome is believed to be one
Chronic lymphocytic leukemia (CLL) is a malignant disease of the lymphatic system that is associated with an increased synthesis of non-functional lymphocytes. Here the chronic lymphocytic leukemia represents over 30 percent
Jacobsen syndrome is a rare genetic disorder. The condition is associated with stunted growth, intellectual disability, heart defects, and limb abnormalities.
Platelets - also known as platelets - play an important role in the human body. They regulate blood clotting and ensure that wounds do not bleed continuously and thus no blood loss occurs. There are different diseases
Chronic myeloid leukemia (CML) is a special subtype of leukemia in which the white blood cells in the blood become ill and have a harmful effect on the entire organism. But how exactly can a disease of CML be diagnosed?
A failure of the metabolism is called diabetic ketoacidosis. Type 1 diabetics are affected here. Diabetic ketoacidosis occurs suddenly and can be fatal. Diabetic ketoacidosis is caused by too much
Menkes syndrome is an X chromosomal recessive inherited disorder of the copper metabolism in which the intestine does not sufficiently absorb the trace element. The insufficient supply of copper manifests itself in the muscles, in the nervous system and in the skeleton
Paget's disease is a disease of the skeleton that is also known as osteodystrophia deformans. In Paget's disease, the bone metabolism is disturbed, resulting in thickening of the bones. Paget's disease sufferers
Cholerstin ester storage disease is a lysosomal storage disease and congenital metabolic disease with a genetic basis. The disease is hereditary and has a genetic mutation in the genes coding for lysosomal acid lipase
If there is a sudden growth of extremities or protruding parts of the body, the suspicion of acromegaly is justified. This is a growth hormone disease, which is also known as Pierre-Marie
Hyponatremia is when the level of sodium in the blood is too low. It is one of the most common electrolyte disorders.
Drooping eye skin or eyelids filled with fat are not only a visual problem, they can also obstruct the view. We are talking about dermatochalasis, which occurs due to an illness or family-related
Psoriasis is a skin disease that is quite common in Germany. Typical signs are red areas of skin that stand out with their silvery-white scales. In addition, these affected areas of the skin are often clearly delineated
Under the medical term steatohepatitis, the doctor describes fatty liver. This arises due to the fact that the fat production is boosted by unhealthy lifestyle in such a way that the fat produced is in the liver cells
Renal anemia is kidney-related anemia that can be attributed to erythropoiesis disorders (synthesis of red blood cells) caused by renal insufficiency. The extent of renal anemia will depend on the severity of the underlying
Otosclerosis is a degenerative disease of the inner and middle ear. The transmission of sound from the eardrum to the inner ear is impeded by so-called bony changes in the temporal bone. The consequence is hearing loss, which as otosclerosis progresses
Spotting, which is often associated with intermenstrual bleeding, can occur in addition to normal menstrual bleeding, during pregnancy or during or after the menopause. The causes can be many

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