读音:美英 maple syrup urine disease基本解释 枫糖尿症;槭糖尿病即枫糖尿症;槭糖尿病;枫糖浆尿病;枫糖尿病 分词解释 maple[人名] [英格兰人姓氏] 梅普尔地貌名称,来源于中世纪英语、古英语,含义是“槭树”(maple tree) syrup糖浆,糖汁 urine尿 disease疾病...
枫糖尿症(maple syrupurine disease,MSUD,OMIM248600)是常染色体隐性遗传性支链氨基酸代谢病,由于支链酮酸脱氢酶复合体(branched chain keto acid dehydrogenase compiex,BCKAD)缺陷导致各种支链氨基酸的酮酸衍生物氧化脱羧作用受阻,大量支链氨基酸及其相应酮酸衍生物在体内蓄积,对脑组织产生神经毒性的作用,干扰正常氨基酸脑转...
Maple Syrup Urine Diseasedoi:10.4172/2161-0665.1000I115Jorge AlvarezGerardo Rivera SilvaHector R. Martinez MenchacaOMICS InternationalPediatrics & Therapeutics
Free Essay: 160030 Maple Syrup Urine disease Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes...
Maple syrup urine disease (MSUD), also termed as branched-chain ketoaciduria, is characterized by infants’ sweet-smelling urine, poor appetite, vomiting, weakness, and delayed development. This inherited disorder may lead to seizures, progressive neurodegeneration, coma, and eventually death when left...
map maple syrup urine disease maprotiline See all Nearby Words Cite this Entry Style “Maple syrup urine disease.” Merriam-Webster.com Medical Dictionary, Merriam-Webster, https://www.merriam-webster.com/medical/maple%20syrup%20urine%20disease. Accessed 28 Mar. 2025. Copy Citation Sha...
Synonyms for maple syrup urine disease nounan inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup Synonyms branched chain ketoaciduria Related Words congenital disease genetic abnormality genetic defect genetic disease genetic disorder hereditary condition hereditary di...
Maple syrup urine disease (MSUD) is a disorder caused by a faulty gene that prevents appropriate metabolization of three amino acids (leucine, isoleucine, valine) essential for growth. These amino acids build up in the body and cause urine to smell sweet. MSUD may cause mental reta...
Noun1.maple syrup urine disease- an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood branched chain ketoaciduria congenital disease,genetic abnormality,genetic defect,genetic disease...
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