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中文Maple Syrup Urine Disease (MSUD)
Alias:
Bckd Deficiency
Msud
Branched-Chain Ketoaciduria
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
Intermittent Maple Syrup Urine Disease
Maple Syrup Urine Disease, Type Ii
Classic Maple Syrup Urine Disease
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency
Thiamine-Responsive Maple Syrup Urine Disease
Intermediate Maple Syrup Urine Disease
Keto Acid Decarboxylase Deficiency
Maple Syrup Urine Disease, Type Ia
Maple Syrup Urine Disease Type 1a
Maple Syrup Urine Disease Type 1b
Maple Syrup Urine Disease Type 2
Branched Chain Ketoaciduria
Bckdh Deficiency
Ketoacidaemia
Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Bckd - [branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]
Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency
Branched-Chain Ketoacid Dehydrogenase Deficiency
Branched Chain Ketoacid Dehydrogenase Deficiency
Dihydrolipoamide Dehydrogenase Deficiency
Nadh Cytochrome B5 Reductase Deficiency
Classic Branched-Chain Ketoaciduria
Thiamine-Responsive Bckd Deficiency
Maple Syrup Urine Disease, Type Ib
Maple Syrup Urine Disease, Type 1b
Msud - [maple-Syrup-Urine Disease]
Maple Syrup Urine Disease Type Ia
Maple Syrup Urine Disease Type Ib
Maple Syrup Urine Disease Type Ii
Ketoacid Decarboxylase Deficiency
Oxoacid Decarboxylase Deficiency
Intermittent Bckd Deficiency
Maple Syrup Urine Disease 1a
Maple Syrup Urine Disease 1b
Maple Syrup Urine Disease 2
Maple-Syrup-Urine Disorder
Maple-Syrup-Urine Syndrome
Thiamine-Responsive Msud
Classic Bckd Deficiency
Maple Syrup Disease
Ketoaminoacidaemia
Intermittent Msud
Ketoacidemia
Classic Msud
Msud Type Ia
Msud Type Ib
Msud Type Ii
Ketonemia
Msud1a
Msud1b
Msud2
Favorite
枫糖尿症，又称bckd缺乏症，与二氢硫辛酰胺脱氢酶缺乏症和中间枫糖尿症有关，症状包括共济失调、嗜睡和癫痫发作。与枫糖尿症相关的基因是BCKDHA（分支链酮酸脱氢酶E1亚基α），其相关通路/超级通路包括代谢和SLITs和ROBOs表达的调节。在该疾病的背景下提到了达格列净和酶抑制剂。附属组织包括大脑和心脏，相关表型为智力障碍和癫痫发作。
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MALACARDS
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