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		<title>甲基丙二酸血症-临床表现-尿甲基丙二酸水平升高 - 版本历史</title>
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		<updated>2026-05-18T07:43:16Z</updated>
		<subtitle>本wiki的该页面的版本历史</subtitle>
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		<title>KGadmin：导入1个版本</title>
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				<updated>2026-04-16T04:38:02Z</updated>
		
		<summary type="html">&lt;p&gt;导入1个版本&lt;/p&gt;
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		<author><name>KGadmin</name></author>	</entry>

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		<title>Admin：修改1</title>
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				<updated>2026-04-13T13:56:59Z</updated>
		
		<summary type="html">&lt;p&gt;修改1&lt;/p&gt;
&lt;p&gt;&lt;b&gt;新页面&lt;/b&gt;&lt;/p&gt;&lt;div&gt;主实体：[[甲基丙二酸血症]]，关系：[[临床表现]] ，尾实体：[[尿甲基丙二酸水平升高]]&lt;br /&gt;
&lt;br /&gt;
==关系介绍==&lt;br /&gt;
待补充&lt;br /&gt;
&lt;br /&gt;
==来源==&lt;br /&gt;
===合并型甲基丙二酸血症并发肺动脉高压2例并文献复习===&lt;br /&gt;
摘要 目的 探讨[[甲基丙二酸血症]](MMA)与肺动脉高压的关系. 方法 回顾分析2例合并型MMA并发肺动脉高压患者的临床特点及基因特征,并复习相关文献,进行总结. 结果 2例患儿均[[尿甲基丙二酸水平升高]]及血同型半胱氨酸(Hcy)升高,符合合并型MMA的诊断;均具有肺动脉高压,并伴有持续性的肾脏损伤,其中1例伴有球形红细胞增多症,1例伴有眼球震颤.2例患儿基因检测显示均有MMACHC基因突变.故为CblC缺陷型,1例基因突变型为:c.80A＞ G(p.Gln27Arg)/c.609G＞ A(p.Trp203Ter)杂合型,1例为c80A＞G(p.Gln27Arg)/c.637G＞T (p.Glu213Ter)杂合型,均最终死于肺动脉高压. 结论 儿童及青少年不明原因肺动脉高压应注意遗传代谢疾病的筛查,特别是对MMA的筛查.&lt;/div&gt;</summary>
		<author><name>Admin</name></author>	</entry>

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