NAD(P)HX表表异构酶缺乏
NAD(P)HX epimerase deficiency
ORPHA:555407疾病
定义 英文原文（暂无中文）
A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported.
别名
载脂蛋白A-I结合蛋白缺乏
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| NAXE | NAD(P)HX epimerase | Disease-causing germline mutation(s) in |
临床表型 27
极常见 99–80%1
- 共济失调 HP:0001251
常见 79–30%12
- 意识模糊 HP:0001289
- 发育倒退 HP:0002376
- 构音障碍 HP:0001260
- 吞咽困难 HP:0002015
- 伴异常缓慢频率的脑电图 HP:0011203
- 步态异常 HP:0001288
- MRI脑白质高信号 HP:0030890
- 肌张力减退 HP:0001252
- 脑脊液乳酸升高 HP:0002490
- 呼吸衰竭 HP:0002878
- 癫痫发作 HP:0001250
- 震颤 HP:0001337
偶见 29–5%14
- 焦虑 HP:0000739
- 非典型行为 HP:0000708
- 脑萎缩 HP:0012444
- 小脑萎缩 HP:0001272
- 脑水肿 HP:0002181
- 白质脑病 HP:0002352
- 局限性皮损 HP:0011355
- 脊髓病 HP:0002196
- 肌阵挛 HP:0001336
- 眼球震颤 HP:0000639
- 上睑下垂 HP:0000508
- 脊柱侧弯 HP:0002650
- 痉挛 HP:0001257
- 斜视 HP:0000486
外部标识与链接
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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）