2mecitratecsfscnc
脑脊液2-甲基柠檬酸检测是一种帮助诊断某些代谢性疾病的实验室检查。
{2-甲基柠檬酸是体内代谢过程中产生的一种物质,脑脊液检测可以帮助发现潜在的代谢问题,此检查通常用于辅助诊断罕见的遗传性代谢疾病,检测结果需要医生结合其他信息综合判断,采样过程安全,由专业医护人员操作}
Key facts at a glance
- LOINC
- 50092-6
- Short code
- 2-MCIT CSF
- Synonyms
- 2Me-citrate CSF-sCnc
- Category
- chemistry
- Sample
- csf
- Container
- Sterile CSF collection tube (polypropylene or glass), typically no additive or sterile dry tube
- Units
- N/A
- Ref low
- 0
- Ref high
- 0.5
- Critical range
- — – 2 N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- Gas chromatography-mass spectrometry (GC-MS) or Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
- CPT
- 83789 (Organic acids, quantitative, specimen: CSF)
- SNOMED
- 122575004 (2-Methylcitrate measurement) or 119288001 (Cerebrospinal fluid chemistry test)
- Specimen volume
- 0.5-1.0 mL of cerebrospinal fluid minimum; 1.5-2.0 mL recommended for comprehensive metabolic panel
- Stability
- Store at 2-8°C if analysis within 24-48 hours. For longer storage, freeze at -20°C or -80°C. Avoid repeated freeze-thaw cycles. Protect from light exposure.
- Hemolysis max
- 200
- TAT
- 48–168 hours
- Order
- routine
这是什么测试?
脑脊液2-甲基柠檬酸检测是一种测量脑脊液中2-甲基柠檬酸浓度的实验室检查。脑脊液是围绕大脑和脊髓的透明液体,可以反映神经系统的代谢状态。2-甲基柠檬酸是人体代谢过程中产生的一种化学物质,正常情况下会被身体分解处理。
为什么要进行这项检查?
医生可能会建议进行这项检查来帮助诊断某些代谢性疾病,如甲基丙二酸血症或其他有机酸血症。这些疾病会影响身体分解和处理某些营养物质的方式。当医生怀疑患者可能存在先天性代谢异常时,可能会使用这项检查来辅助诊断。
检查过程是怎样的?
脑脊液样本通过腰椎穿刺(腰穿)采集。操作过程中,患者通常侧卧或坐位,医生会在腰椎间隙穿刺,抽取少量脑脊液。采集的样本会被送往实验室进行分析。整个过程由经验丰富的医生操作,通常是安全的,可能会有轻微的不适感或短暂的刺痛感。
检查结果意味着什么?
脑脊液中2-甲基柠檬酸的正常浓度因实验室参考值而异。如果检测结果异常升高,可能提示存在代谢性疾病。然而,单一的检测结果不能单独确诊任何疾病,医生需要结合患者的症状、病史、其他检查结果等信息进行综合判断。
Reference range
Reference range: 0-0.5 micromoles per liter (μmol/L) or not detected. Elevated levels may indicate inherited metabolic disorders such as propionic acidemia or methylmalonic acidemia.N/A
No special preparation required. Collect CSF via lumbar puncture following standard aseptic technique. No fasting necessary. Inform patient of procedure risks and obtain informed consent.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Frequently asked questions
这项检查有什么风险吗?
检查前需要禁食或特殊准备吗?
结果多久可以出来?
如果结果异常该怎么办?
Sources
- 1MedlinePlus - Spinal TapSource
- 2
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy