Maple syrup urine disease（枫糖尿症） |
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BCKDHA, BCKDHB, DBT 这三个基因的表达产物结合成一个多酶复合体，代谢食物中的支链氨基酸亮氨酸、异亮氨酸和缬氨酸。这3个基因中任何一个突变都会造成机体无法代谢上述氨基酸，这些氨基酸及其副产品在体内堆积，对大脑及身体器官造成损害。
BCKDHB基因编码BCKD多酶复合体（支链α-酮酸脱氢酶多酶复合体）的β亚基，2个α亚基和2个β亚基组成BCKD的一个E1单元。BCKDHB基因已发现40多种突变，多数于经典型枫糖尿症患者中发现，有点突变和小片段缺失，常见突变为R183P。
| 基因名称 | 基因全名 | 基因位置 | 外显子个数 | CDS长度 |
|---|---|---|---|---|
| BCKDHB | branched chain keto acid dehydrogenase E1, beta polypeptide | 6q14.1 | 11 | 约3712 bp |
| 基因摘要 | This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]. | |||