B族维生素与遗传代谢病防治

Vitamins B and the prevention and treatment of inherited metabolic disorders

B族维生素转运或生物转化障碍可导致多种遗传代谢病。B族维生素是人体重要的营养素,充当多种酶的辅酶,参与机体能量和物质代谢。维生素B_(1)主要生理功能是构成脱羧酶等的辅酶,参与物质代谢和能量代谢,为支链氨基酸代谢所必需。维生素B_(2)主要以衍生为生物黄素核苷酸和黄素腺嘌呤二核苷酸,参与体内生物氧化与能量生成。维生素B_(6)的生物活性形式是氨基酸脱羧酶、转氨酶等的辅酶,参与体内血红素和某些神经递质的合成以及含硫氨基酸的转化等生理功能。

Impaired transport or biotransformation of vitamins B can lead to a variety of inherited metabolic diseases.Vitamins B are important nutrients in the human body,acting as coenzymes for many enzymes and participating in the body's energy and material metabolism.The main physiolo-gical function of vitamin B_(1) is to constitute the coenzymes of decarboxylase and other enzymes,participate in material metabolism and energy metabolism,and is necessary for the metabolism of branched-chain amino acids.Vitamin B_(2) is mainly derived as bioflavin nucleotides and flavin adenine dinucleotides,which are involved in biological oxidation and energy generation in the body.The bioactive form of vitamin B_(6) is a coenzyme of amino acid decarboxylase,aminotransferase,etc.It is involved in the synthesis of hemoglobin and certain neurotransmitters,as well as the conversion of sulfur-containing amino acids and other physiological functions.