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In medicine, proteinopathy ([pref. protein]; -pathy [suff. disease]; proteinopathies pl.; proteinopathic adj), or proteopathy, protein conformational disorder, or protein misfolding disease, is a class of diseases in which certain proteins become structurally abnormal, and thereby disrupt the function of cells, tissues and organs of the body.
Swelling or oedema from loss of protein; Anaemias, commonly from vitamin B 12, folic acid and iron deficiency presenting as fatigue and weakness, and the first of which can give rise to neuropsychiatric symptoms such as abnormal sensations, difficulty walking, and decreased mental abilities. Muscle cramp from decreased vitamin D, calcium ...
A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process . [ 3 ]
Hartnup disease (also known as "pellagra-like dermatosis" [1] and "Hartnup disorder" [2]) is an autosomal recessive [3] metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin, and niacin).
Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome [2]) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. [3]
The pathophysiology of protein losing enteropathy is a result of plasma protein loss to the GI tract lumen. [2] PLE is a complication of a disorder, be it lymphatic obstruction or mucosal injury. [7] Protein losing enteropathy is a syndrome, characterized by a collection of signs and symptoms that are due to an underlying primary medical condition.
The deranged protein metabolism leads to the accumulation of waste products, such as ammonia, in the bloodstream. When these irritate the brain, patients develop hepatic encephalopathy – a serious condition that causes confusion, coma, seizures and, finally, life-threatening swelling of the brain ).
Methylmalonic acidemia has an autosomal recessive pattern of inheritance.. Methylmalonic acidemias have an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene—one from each parent—must be inherited to be affected by the disorder.