| 单词 |
Type I Ataxia with Lactic Acidosis |
| 释义 |
Type I Ataxia with Lactic Acidosis | 《英文msh词典》Type I Ataxia with Lactic Acidosis | | [入口词] Type I Ataxia with Lactic Acidosis | | [主题词] Pyruvate Dehydrogenase Complex Deficiency Disease | | [英文释义] An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX,resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis,alopecia,intermittent ATAXIA,SEIZURES,and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE. |
|
| 随便看 |
- Agonists,Adrenergic beta-Receptor
- Agonists,Adrenergic Receptor
- Agonists,alpha-Adrenergic
- Agonists,alpha-Adrenergic Receptor
- Agonists,beta-Adrenergic
- Agonists,beta-Adrenergic Receptor
- Agonists,Calcium Channel
- Agonists,Cholinergic
- Agonists,Dopamine
- Agonists,Dopamine Receptor
- Agonists,Dopaminergic
- Agonists,EAA
- Agonist,Serotonergic
- Agonist,Serotonin
- Agonist,Serotonin Receptor
- Agonists,Excitatory Amino Acid
- Agonists,GABA
- Agonists,GABA Receptor
- Agonists,gamma-Aminobutyric Acid
- Agonists,Glutamate
- Agonists,H1
- Agonists,H2
- Agonists,H3
- Agonists,Histamine
- Agonists,Histamine H1
- 活期余额和可用余额有什么区别
- 创业可以贷款吗
- 信用卡没到账单日可以提前还款吗
- 贷款批不下来首付款可以退吗
- 美联储加息对股市有什么影响
- 股票注册制后散户怎么操作
- 贷款逾期记录多久能消除
- 信用卡已过还款日一天没事吧
- 租金收入要交哪些税
- 人民币是如何印制的
- 回落是上升还是下降
- 怎么解除24小时到账
- 住房公积金贷款怎么计算可以贷多少
- 股票为什么除权
- 银利多和定期存款区别
- 合墨数据扣款什么意思
- 农村信用社查询余额怎么查
- 循环额度是什么意思
- 新农合首次可以网上办理吗
- 股票注册制什么时间开始
- 桔多多放款中要多久到账
- 如何查询有没有开通花呗
- 网申信用卡被拒能到柜台申请吗
- 打新股顶格申购能中几签
- 公积金和工龄有关系吗
|