Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
定义 英文原文（暂无中文）
A rare neurometabolic disorder characterized typically by severe neonatal or early-infantile encephalopathy, lactic acidosis and basal ganglia involvement. Majority of the patients present with severe developmental delay, hypotonia, dystonia, seizures, failure to thrive, cardiomyopathy, liver steatosis and/or hepatomegaly and sensorineural hearing loss. Optic atrophy and nystagmus may also be present. A subset of patients (mostly with an onset in infancy) may present with a milder phenotype including paroxymal dystonia, subtle gait abnormalities. In these patients motor and cognitive development is near normal and usually no major cardiomyopathy, liver failure or severe lactic crises are present.
别名
Crotonase deficiency、ECHS1D
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期、婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ECHS1 | enoyl-CoA hydratase, short chain 1 | Disease-causing germline mutation(s) in |
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）