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Hydrocephalus in cblC type methylmalonic acidemia

  • Kaihui Zhang
  • Min Gao
  • Guangyu Wang
  • Yingying Shi
  • Xiaoying Li
  • Yvqiang Lv
  • Guangye Zhang
  • Zhongtao GaiEmail author
  • Yi LiuEmail author
Original Article

Abstract

Methylmalonic acidemia (MMA) is a typical type of organic acidemia caused by defects in methylmalonyl-CoA mutase or adenosyl-cobalamin synthesis. Hydrocephalus (HC), results from an imbalance between production and absorption of cerebrospinal fluid (CSF), causeing enlarged cerebral ventricles and increased intracranial pressure, is a condition that requires urgent clinical decision-making. MMA without treatment could result in brain damage. However, HC in MMA was rarely reported. In this study, 147 MMA were identified from 9117 high risk children by gas chromatography mass spectrometry (GC/MS) for organic acidurias screening in urine samples and liquid chromatography-tandem mass spectrometry (LC-MS/MS) for amino acids detection in blood samples. Totally 10 cases with MMA and HC were determined by brain MRI/CT, as well as gene mutation testing either by high throughput sequencing or Sanger sequencing. Besides, homocysteine was also analyzed for the 10 MMA with HC. Out of them, 9 cases carry out compound heterozygous mutations or homozygous mutation in MMACHC gene, and 1 case has MUTmutation. The mutation c.609G > A in MMACHC was the most common in the cbl type patients. Although MMA has a high incidence in Shandong province of China, especially cblC type. All of the 10 patients were not correctly diagnosed before developing HC. As a result, when a child develops progressive and refractory HC, the screening for inherited metabolic diseases should be immediately conducted.

Keywords

Methylmalonic academia Hydrocephalus MUT MMACHC cblC type 

Notes

Acknowledgments

This work was financially supported by the Science and technology development project of Shandong Health Department (2013WS0009) and Natural Science Training Foundation of Shandong Province (ZR2014HP051). The authors are grateful to the patients and their parents for their contribution to the study. We would like to thank SinoPath (Beijing) Medical Laboratory for technical support.

Compliance with ethical standards

Conflict of interest

There are no conflicts of interest.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Kaihui Zhang
    • 1
  • Min Gao
    • 1
  • Guangyu Wang
    • 2
  • Yingying Shi
    • 3
  • Xiaoying Li
    • 4
  • Yvqiang Lv
    • 1
  • Guangye Zhang
    • 1
  • Zhongtao Gai
    • 1
    Email author
  • Yi Liu
    • 1
    Email author
  1. 1.Pediatric Research InstituteQilu Children’s Hospital of Shandong UniversityJinanChina
  2. 2.Department of NeurosurgeryQilu Children’s Hospital of Shandong UniversityJinanChina
  3. 3.Department of ImagingQilu Children’s Hospital of Shandong UniversityJinanChina
  4. 4.Department of NeonatologyQilu Children’s Hospital of Shandong UniversityJinanChina

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