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中华诊断学电子杂志 ›› 2017, Vol. 05 ›› Issue (04) : 281 -284. doi: 10.3877/cma.j.issn.2095-655X.2017.04.015

所属专题: 文献

临床研究

cb1C型甲基丙二酸血症合并同型半胱氨酸血症的诊断学特征并文献复习
盛志强1,(), 袁嫣然1, 赵兵1   
  1. 1. 272013 济宁市第一人民医院儿童康复科
  • 收稿日期:2017-09-11 出版日期:2017-11-26
  • 通信作者: 盛志强
  • 基金资助:
    济宁市科技局项目(济科字[2016]56号-55)

Diagnostic features of cb1C-type mthylmalonic acidemia with homocysteinemia and literature review

Zhiqiang Sheng1,(), Yanran Yuan1, Bing Zhao1   

  1. 1. Department of Pediatric Rehabilitation, The first People’s Hospital of Jining, Jining 272013, China
  • Received:2017-09-11 Published:2017-11-26
  • Corresponding author: Zhiqiang Sheng
  • About author:
    Corresponding author: Sheng Zhiqiang, Email:
引用本文:

盛志强, 袁嫣然, 赵兵. cb1C型甲基丙二酸血症合并同型半胱氨酸血症的诊断学特征并文献复习[J]. 中华诊断学电子杂志, 2017, 05(04): 281-284.

Zhiqiang Sheng, Yanran Yuan, Bing Zhao. Diagnostic features of cb1C-type mthylmalonic acidemia with homocysteinemia and literature review[J]. Chinese Journal of Diagnostics(Electronic Edition), 2017, 05(04): 281-284.

目的

探讨甲基丙二酸血症的诊断学特征。

方法

回顾性分析2017年6月5日济宁市第一人民医院儿童康复科收治的1例cb1C型甲基丙二酸血症合并同型半胱氨酸血症患儿的临床资料并复习文献。

结果

患儿临床表现为全面发育迟缓、嗜睡、喂养困难、双眼凝视、反复皮疹。动态脑电图未见明显异常;颅脑磁共振示脑发育不良;神经心理发育评估示中度发育迟缓;同型半胱氨酸:117.60 μmol/L;血串联质谱示蛋氨酸:3.40 μmol/L,丙酰肉碱(C3):4.96 μmol/L,丙酰肉碱/乙酰肉碱(C3/C2):1.01,丙酰肉碱/游离肉碱(C3/C0):0.29;尿有机酸示甲基丙二酸:303.19 μmol/L,3-羟基丙酸:21.07 μmol/L,甲基枸橼酸:5.43 μmol/L;基因检测示MMACHC基因外显子2:c.217C>T(p.R73X)、外显子4:c.609G>A(p.W203X),为复合杂合变异,确诊为cb1C型甲基丙二酸血症合并同型半胱氨酸血症。

结论

甲基丙二酸血症临床表现无特异性,确诊需要行血串联质谱、尿气相色谱等代谢病筛查,具体分型则依赖于基因检测。

Objective

To explore the diagnostic features of mthylmalonic acidemia.

Methods

The clinical data of a 4-months-old infantile combined with methylmalonic acidemia and homocysteinemia who was diagnosed in the first People’s Hospital of Jining was retrospectively analyzed, the relevant literatures were reviewed.

Results

The boy mainly presented with global developmental delay, drowsiness, feeding difficulties, binocular gaze and repeated skin rash.The ambulatory electroencephalogram (AEEG) was negative.The cerebral magnetic resonance imaging(MRI) showed cerebral hypoplasia.The neurological development was moderate mental retardation.The blood homocysteine was 117.60 μmol/L.The result of blood tandem mass spectrometry was abnormal, the concentrations of methionine and carnitine were 3.40 μmol/L and 4.96 μmol/L, respectively.The ratios of C3/C2 and C3/C0 were elevated.Urine organic acid analysis showed that the level of methylmalonic acid was elevated obviously which was 303.19 μmol/L, with elevated 3 hydroxy propionic acid and methyl citrate, which were 21.07 μmol/L and 5.43 μmol/L, respectively.The diagnosis was confirmed by molecular genetic study of the gene MMACHC, and there were two nonsense mutations (c.217C>T, p.R73X and c. 609G>A, p.W203X). The compound heterozygous mutations were from his parents respectively.He was diagnosed with cb1C-type methylmalonic acidemia and homocysteinemia.

Conclusions

The clinical features of methylmalonic acidemia are nonspecific.Diagnosis relies on analysis of organic acids in plasma and/or urine by gas-liquid chromatography and mass spectrometry.Establishing the specific subtype of methylmalonic acidemia requires molecular genetic testing.

图1 甲基丙二酸血症患儿颅脑磁共振图像。a图为横轴位T1加权像;b图为横轴位T2加权像;c图为矢状位T1加权像;可见脑实质容积小(粗箭头)、胼胝体纤细(细箭头)、脑外间隙及侧脑室扩大(圆圈处),提示脑发育不良
图2 甲基丙二酸血症患儿基因测序结果。发现两个杂合变异:c.217C>T(p.R73X)、c.609G>A(p.W203X),分别来源于父母,为复合杂合变异
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