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Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal recessive metabolic disorder [1] which damages muscle and nerve cells throughout the body.
Mitochondrial myopathy literally means mitochondrial muscle disease, muscle disease caused by mitochondrial dysfunction. The mitochondrion is the primary producer of energy in nearly all cells throughout the body. The exception is mature erythrocytes (red blood cells), so that they do not use up the oxygen that they carry.
Glycogen storage disease type V (GSD5, GSD-V), [1] also known as McArdle's disease, [2] is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. [3] [4] Its incidence is reported as one in 100,000, roughly the same as glycogen storage disease type ...
Iron deposition most commonly occurs in the liver, pancreas, skin, heart, and joints. People with iron overload classically present with the triad of liver cirrhosis, secondary diabetes mellitus, and bronze skin. [3] However, due to earlier detection nowadays, symptoms are often limited to general chronic malaise, arthralgia, and hepatomegaly. [3]
Hemosiderin deposition in the liver is a common feature of hemochromatosis and is the cause of liver failure in the disease. Selective iron deposition in the beta cells of pancreatic islets leads to diabetes [4] [2] due to the distribution of transferrin receptor on the beta cells of islets [3] and in the skin leads to hyperpigmentation.
If you have a gastrointestinal condition like irritable bowel syndrome, Crohn’s Disease, or Celiac Disease, or have had bariatric surgery, you also might have a tougher time absorbing iron and ...
This appearance is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber. [6] These may extend throughout the muscle fiber as the disease severity increases. The mitochondrial aggregates cause the contour of the muscle fiber to become irregular, leading to the "ragged" appearance. [3]