2-氨基己二酸2-氧己二酸尿症
2-aminoadipic 2-oxoadipic aciduria
ORPHA:79154疾病
定义 英文原文（暂无中文）
A rare disorder of lysine and tryptophan metabolism characterized by 2-aminoadipic and 2-oxoadipic aciduria. Patients may also present with increased urinary excretion of alpha-hydroxyadipic acid. Variable clinical presentations have been found in patients including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy, and behavioral disorders (most commonly attention deficit hyperactivity disorder). However, many individuals with the biochemical phenotype are completely asymptomatic and thus the clinical significance of the condition is questionable.
别名
α-氨基己二酸尿
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期、婴儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| DHTKD1 | dehydrogenase E1 and transketolase domain containing 1 | Disease-causing germline mutation(s) in |
临床表型 11
极常见 99–80%1
- α-氨基己二酸尿症 HP:0410309
常见 79–30%2
- 2-羟基己二酸尿症 HP:0034465
- 循环2-氨基己二酸水平升高 HP:6000278
偶见 29–5%8
- 注意力缺陷多动障碍 HP:0007018
- 孤独症 HP:0000717
- 语言发育迟缓 HP:0000750
- 全面发育迟缓 HP:0001263
- 肌张力减退 HP:0001252
- 智力障碍 HP:0001249
- 小头畸形 HP:0000252
- 癫痫发作 HP:0001250
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）