概述

遗传性代谢障碍是指由遗传缺陷所引起的且干扰身体新陈代谢的各种疾病,往往遗传自父母。此类医疗状况也称为先天性代谢缺陷。

新陈代谢是一组复杂的化学反应,人体通过此过程维持生命,包括产生能量。特殊的酶可以分解食物或某些化学物质,使人体可以立即消耗它们以提供能量,或者储存起来。此外,某些化学过程会分解人体不再需要的物质,或者产生人体缺乏的物质。

如果这些化学过程因缺乏激素或酶而无法正常工作,就会发生代谢障碍。遗传性代谢障碍可分为不同的类别,取决于具体的物质,以及是否积累到有害的量(因为其无法被分解)以及含量是过低还是缺失。

遗传性代谢障碍有数百种类型,由不同的基因缺陷所造成。例如:

有些代谢障碍可以在出生时通过常规筛查进行诊断。有些只能在儿童或成人表现出某种疾病的症状后才能被确定。

遗传性代谢障碍的治疗取决于疾病的类型和严重程度。遗传性代谢障碍有多种类型,治疗建议各不相同,包括从限制饮食到肝移植。

症状

There are hundreds of inherited metabolic disorders caused by different genes. Symptoms depend on the type of disorder and how severe it is.

Examples of inherited metabolic disorders include:

When to see a doctor

If you have concerns about your child's growth and development or your own health, talk to your doctor or other healthcare professional.

病因

Inherited metabolic disorders are caused by changes in specific genes that affect metabolism. Different gene changes cause different types of inherited metabolic disorders. These gene changes are most commonly passed down from both parents. But sometimes the gene change comes only from one parent, most often from the mother. There are hundreds of inherited metabolic disorders caused by different genes.

风险因素

The risk of an inherited metabolic disorder is higher if one or both parents have the gene change that can cause the condition. In some cases, future parents may decide to have carrier testing before pregnancy. This test can identify some gene changes in parents that may raise the risk that future children will have certain types of inherited metabolic disorders.

在 Mayo Clinic 治疗

July 12, 2017
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  2. Kliegman RM, et al. An approach to inborn errors of metabolism. In: Nelson Textbook of Pediatrics. 20th ed. Philadelphia, Pa.: Elsevier; 2016. https://www.clinicalkey.com. Accessed April 11, 2017.
  3. Sutton VR. Inborn errors of metabolism: Classification. https://www.uptodate.com/home. Accessed April 11, 2017.
  4. Sutton VR. Inborn errors of metabolism: Identifying the specific disorder. https://www.uptodate.com/home. Accessed April 11, 2017.
  5. Sutton VR. Inborn errors of metabolism: Epidemiology, pathogenesis and clinical features. https://www.uptodate.com/home. Accessed April 11, 2017.
  6. Brown AY. Allscripts EPSi. Mayo Clinic, Rochester, Minn. April 11, 2017.
  7. Lanpher BC (expert opinion). Mayo Clinic, Rochester, Minn. May 16, 2017.

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