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Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981. [2] The disease belongs to a group of genetic disorders known as thrombophilias. Protein C deficiency is associated with an increased incidence of venous thromboembolism (relative risk 8–10), whereas no association with ...
Complement deficiency. Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the complement system proteins. [4] Because of redundancies in the immune system, many complement disorders are never diagnosed. Some studies estimate that less than 10% are identified. [5]
Kwashiorkor is a type of severe acute malnutrition (SAM). SAM is a category, composed of two conditions: marasmus and kwashiorkor. [9] Both kwashiorkor and marasmus fall under the umbrella of protein–energy malnutrition (PEM). [10] These diseases are oftentimes discussed together, but are distinctly separate conditions of malnutrition.
Purpura fulminans is an acute, often fatal, thrombotic disorder which manifests as blood spots, bruising and discolouration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leads to skin necrosis and disseminated intravascular coagulation. [2][3]
The frequency of protein C deficiency among asymptomatic individuals is between 1 in 200 and 1 in 500. In contrast, significant symptoms of the deficiency are detectable in 1 in 20,000 individuals. No racial nor ethnic biases have been detected. [21]: 1215 At least 177 disease-causing mutations in this gene have been discovered. [40]
Specialty. Endocrinology. Protein–energy undernutrition (PEU), once called protein-energy malnutrition (PEM), is a form of malnutrition that is defined as a range of conditions arising from coincident lack of dietary protein and/or energy (calories) in varying proportions. The condition has mild, moderate, and severe degrees.
Complement component 3, often simply called C3, is a protein of the immune system that is found primarily in the blood. It plays a central role in the complement system of vertebrate animals and contributes to innate immunity. In humans it is encoded on chromosome 19 by a gene called C3. [5][6]
Complement 3 deficiency is a genetic condition affecting complement component 3 (C3). People can suffer from either primary or secondary C3 deficiency. Primary C3 deficiency refers to an inherited autosomal-recessive disorder that involves mutations in the gene for C3. [1] Secondary C3 deficiency results from a lack of factor I or factor H, two ...