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Most of the organic acidemias result from defective autosomal genes for various enzymes important to amino acid metabolism.Neurological and physiological harm is caused by this impaired ability to synthesize a key enzyme required to break down a specific amino acid, or group of amino acids, resulting in acidemia and toxicity to specific organs systems.
An essential amino acid, or indispensable amino acid, is an amino acid that cannot be synthesized from scratch by the organism fast enough to supply its demand, and must therefore come from the diet. Of the 21 amino acids common to all life forms, the nine amino acids humans cannot synthesize are valine , isoleucine , leucine , methionine ...
Amino acids are formally named by the IUPAC-IUBMB Joint Commission on Biochemical Nomenclature in terms of the fictitious "neutral" structure shown in the illustration. For example, the systematic name of alanine is 2-aminopropanoic acid, based on the formula CH 3 −CH(NH 2)−COOH. The Commission justified this approach as follows: [7]
Vitamin B 2 (riboflavin) Vitamin B 3 (niacin) Vitamin B 5 (pantothenic acid) Vitamin B 6 group: Pyridoxine; Pyridoxal-5-Phosphate; Pyridoxamine; Vitamin B 7 (biotin) Vitamin B 9 (folate) Vitamin B 12 (cobalamin) Choline; Vitamin A (e.g. retinol (see also - provitamin A carotenoids)) Vitamin C (Ascorbic acid) Vitamin D. Ergocalciferol ...
In the middle of the 20th century the principal treatment for some of the amino acid disorders was restriction of dietary protein and all other care was simply management of complications. In the past twenty years, new medications, enzyme replacement, gene therapy, and organ transplantation have become available and beneficial for many ...
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Kwashiorkor is a disease of malnutrition characterized by decreased protein intake and amino acid deficiency resulting in hypoalbuminemia and a characteristic physical presentation. This is an extreme example of how malnutrition can result in hypoalbuminemia. [ 3 ]
It is an amino acid derivative, naturally produced in the human body from the amino acids glycine and arginine, with an additional requirement for S-adenosyl methionine (a derivative of methionine) to catalyze the transformation of guanidinoacetate to creatine.