Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
ORPHA:615964疾病暂无中文名
定义 英文原文（暂无中文）
A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate.
别名
Acute reversible leukoencephalopathy due to SLC13A3 deficiency、Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency
基本事实
- 发病年龄
- 成年期、儿童期
- 患病率
- <1 / 1 000 000
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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）