磷酸烯醇式丙酮酸羧激酶缺乏症
Phosphoenolpyruvate carboxykinase deficiency
定义 英文原文（暂无中文）
A rare gluconeogenesis disorder characterized by recurrent hypoglycemia mostly associated with acute episodes of severe lactic acidosis and hepatic dysfunction including liver failure due to phosphoenolpyruvate carboxykinase enzyme deficiency. Hypoglycemic seizures occur predominantly at the age of 1-2 years and mostly in the mornings. However they can also present neonatally or at a later age, and could re-occur during school age or adulthood. Patients have recognizable pattern of abnormal urine organicacids (including increased tricarboxylic acid cycle metabolites) and inadequate ketone body production during hypoglycemia. Some patients may also have encephalopathy, cerebral edema and seizures thay may result in neuroregression and/or global developmental delay associated to failure to manage hypoglycemia. Some patients may also be asymptomatic.
别名
PEPCK缺乏症
基本事实
- 遗传方式
- 常染色体隐性、线粒体遗传
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PCK1 | phosphoenolpyruvate carboxykinase 1 | Disease-causing germline mutation(s) in |
| PCK2 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Disease-causing germline mutation(s) in |
临床表型 22
极常见 99–80%1
- 反复发作性低血糖 HP:0001988
常见 79–30%9
- 血清丙氨酸转氨酶升高 HP:0031964
- 血清天冬氨酸转氨酶升高 HP:0031956
- 尿富马酸水平升高 HP:0034648
- 高谷氨酰胺血症 HP:0003217
- 低血糖发作 HP:0002173
- 循环乳酸水平升高 HP:0002151
- 尿α-酮戊二酸浓度增高 HP:0012402
- 乳酸酸中毒 HP:0003128
- 乳酸血症 HP:0003648
偶见 29–5%10
- 急性脑病 HP:0006846
- 肝功能下降 HP:0001410
- 困倦 HP:0002329
- 肝脂肪变性 HP:0001397
- 低血糖昏迷 HP:0001325
- 肌张力减退 HP:0001252
- 昏睡 HP:0001254
- 新生儿低血糖 HP:0001998
- 神经发育延迟 HP:0012758
- 呕吐 HP:0002013
罕见 <4–1%2
- 高氨血症 HP:0001987
- 小头畸形 HP:0000252
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）