双功能酶缺乏
Bifunctional enzyme deficiency
定义 英文原文（暂无中文）
A rare peroxisomal beta-oxidation disorder characterized by deficiency of peroxisomal D-bifunctional protein, type 1 being caused by deficiency of both dehydrogenase and hydratase activities of the enzyme, and types 2 and 3 by hydratase or dehydrogenase deficiency alone, while type 4 is due to compound heterozygous mutations affecting both units and represents a clinically milder phenotype. Types 1-3 are typically fatal in infancy. Patients present with early onset of generalized hypotonia, seizures, severe global developmental delay, craniofacial dysmorphism (large fontanel, high forehead, hypertelorism, epicanthal folds) and elevated plasma very long chain fatty acids. Variable features include hepatomegaly, polymicrogyria, and cerebral white matter abnormalities, among others.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期
- 患病率
- 1-9 / 100 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | Disease-causing germline mutation(s) in |
| EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | 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
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）