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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]
Chronic alcoholism can also cause poor absorption, which combined with a diet already low in niacin and tryptophan produces pellagra. [10] Hartnup disease is a genetic disorder that reduces tryptophan absorption, leading to pellagra. Alterations in protein metabolism may also produce pellagra-like symptoms.
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.
Congenital errors of amino acid metabolism are inherited metabolic disorders that impair the synthesis and degradation of amino acids. [1] This means that the body has trouble breaking down and building some amino acids, the building blocks of protein in the body. [2] The body can also have trouble with cellular update up amino acids.
Protein involved in Iron metabolism disorder (HFE) Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency. [ 6 ] These diseases, of which there are many subtypes, are known as inborn errors of metabolism. [ 7 ]
Pages in category "Amino acid metabolism disorders" The following 82 pages are in this category, out of 82 total. ... Lysinuric protein intolerance; M. Maple syrup ...
Lysinuric protein intolerance (LPI) is an autosomal recessive [1] metabolic disorder affecting amino acid transport. It is characterised by the body's inability to properly digest and use certain proteins. [2] This condition leads to various metabolic complications and is typically diagnosed in infancy or early childhood. [3]