丙酮酸脱氢酶缺乏症
Pyruvate dehydrogenase deficiency
ORPHA:765疾病
定义 英文原文（暂无中文）
Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.
别名
丙酮酸脱氢酶复合物缺乏症
基本事实
- 遗传方式
- 常染色体隐性、不适用、X 连锁显性
- 发病年龄
- 儿童期、婴儿期、新生儿期
- 患病率
- <1 / 1 000 000（Europe）
相关基因 8来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| DLAT | dihydrolipoamide S-acetyltransferase | ORPHA:79244 |
| DLD | dihydrolipoamide dehydrogenase | ORPHA:2394 |
| LIAS | lipoic acid synthetase | ORPHA:401859 |
| LONP1 | lon peptidase 1, mitochondrial | ORPHA:79243 |
| PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | ORPHA:79243 |
| PDHB | pyruvate dehydrogenase E1 subunit beta | ORPHA:255138 |
| PDHX | pyruvate dehydrogenase complex component X | ORPHA:255182 |
| PDP1 | pyruvate dehydrogenase phosphatase catalytic subunit 1 | ORPHA:79246 |
临床表型 35
极常见 99–80%5
- 面部形状异常 HP:0001999
- 婴儿期喂养困难 HP:0008872
- 生长延迟 HP:0001510
- 肌张力减退 HP:0001252
- 昏睡 HP:0001254
常见 79–30%15
- 锥体束征 HP:0007256
- 眼球运动异常 HP:0000496
- 胼胝体发育缺陷/发育不全 HP:0007370
- 共济失调 HP:0001251
- 舞蹈手足徐动 HP:0001266
- 构音障碍 HP:0001260
- 步态异常 HP:0001288
- 全面发育迟缓 HP:0001263
- 胎儿宫内发育迟缓 HP:0001511
- 小头畸形 HP:0000252
- 第四趾中节趾骨溶骨性缺陷 HP:0100453
- 癫痫发作 HP:0001250
- 痉挛 HP:0001257
- 呼吸过速 HP:0002789
- 震颤 HP:0001337
偶见 29–5%15
- 脑瘫 HP:0100021
- 呼吸困难 HP:0002094
- 肌张力障碍 HP:0001332
- 内眦赘皮 HP:0000286
- 前额突出 HP:0002007
- 高腭 HP:0000218
- 眼距过宽 HP:0000316
- 长人中 HP:0000343
- 多发性脂肪瘤 HP:0001012
- 脸狭窄 HP:0000275
- 漏斗胸 HP:0000767
- 三角头畸形 HP:0000243
- 睑裂上斜 HP:0000582
- 巨脑室 HP:0002119
- 宽鼻梁 HP:0000431
外部标识与链接
OrphanetOMIM:245348OMIM:245349OMIM:246900MONDO:0019169GARD:7513ICD-10 E74.4ICD-11 5C53.02ClinicalTrials.gov 检索
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）