枫糖尿病

定义

枫糖尿病是一种支链氨基酸代谢紊乱的疾病。有四种形式。早期发病的典型形式表现为出生后嗜睡、喂养不良和神经系统中毒症状。未经治疗临床过程的特点是昏迷程度加深，尿液有枫糖浆味。亚急性后期表现为脑病、精神障碍、严重肌张力减退、角弓反张和脑萎缩，预后严重。间歇性MSUD可在任何年龄出现，并表现为反复酮症酸中毒昏迷。硫胺素反应性MSUD是一种非常罕见的形式，其特点是通过硫胺素治疗改善生化状况。

Maple syrup urine disease (MSUD) is a disorder of branched-chain amino acids metabolism. Four forms are described. The early onset classic form manifests after birth by lethargy, poor feeding and neurological signs of intoxication. Clinical course without treatment is characterised by deepening coma with maple syrup odour of urine. Subacute MSUD manifests later with encephalopathy, mental disability, major hypotonia, opisthotonus and cerebral atrophy with severe outcome. The intermittent form of MSUD may manifest at any age and presents with repeated ketoacidotic coma. Thiamine-responsive MSUD is a very rare form characterised by improvement of the biochemical profile with thiamine therapy.

索引词 可用于检索该条目的同义词与别名

• 枫糖尿病
• MSUD[枫糖尿病]
• 支链酮酸脱氢酶缺乏症
• 支链-α-酮酸脱氢酶缺乏
• BCKD[支链-α-酮酸脱氢酶缺乏]
• 枫糖尿病
• 枫糖尿综合征
• 支链酮酸脱氢酶缺乏症
• 酮酸血症
• 酮酸脱羧酶缺乏
• 支链酮酸尿症
• 酮酸脱羧酶缺乏症
• 槭糖尿病
• 经典型枫糖尿病
• 严重支链酮酸脱氢酶缺乏
• 严重支链酮酸尿
• 典型型枫糖尿病
• 中间型枫糖尿病
• 部分支链酮酸脱氢酶缺乏
• 中间型支链酮酸尿
• 间歇型枫糖尿病
• 间歇型支链酮酸尿
• 硫胺素反应型枫糖尿病