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However, Jamaican pediatrician Cicely Williams introduced the term in 1935, two years after she published the disease's first formal description. Williams was the first to research kwashiorkor and differentiate it from other dietary deficiencies. She was the first to suggest that this might be a protein deficiency.
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 in varying proportions. The condition has mild, moderate, and severe degrees.
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 .
Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities called peripheral neuropathy. Some who have MTP deficiency show a progressive course associated with myopathy, and recurrent rhabdomyolysis. [2 ...
Human Chr 3. In terms of the cause of protein S deficiency it can be in inherited via autosomal dominance.A mutation in the PROS1 gene triggers the condition. The cytogenetic location of the gene in question is chromosome 3, specifically 3q11.1 [6] [7] Protein S deficiency can also be acquired due to vitamin K deficiency, treatment with warfarin, liver disease, kidney disease, chemotherapy ...
CD55 deficiency, also called DAF deficiency or CHAPLE syndrome, is a rare genetic disorder of the immune system. CHAPLE stands for "CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and severe protein-losing enteropathy (PLE)." [1] The disorder usually manifests in childhood and can be life-threatening. This condition ...
GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. [1]
Carbamoyl phosphate synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.