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Print ISSN: 1792-0981 Online ISSN: 1792-1015
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Case Report

3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report

  • Authors:
    • Xiaosheng Hao
    • Jiangtao Wang
    • Songyan Liu
    • Yinbo Chen
    • Yan Zhang
    • Yunpeng Hao
  • View Affiliations / Copyright

    Affiliations: Department of Pediatric Neurology, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China, Department of Neurology, The P.R. China‑Japan Union Hospital, Changchun, Jilin 130033, P.R. China
  • Pages: 2573-2576
    |
    Published online on: April 11, 2016
       https://doi.org/10.3892/etm.2016.3243
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Abstract

3-Hydroxy-3-methylglutaric aciduria (3-HMG, OMIN 246450) is a rare autosomal recessive metabolic disorder caused by a deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase, a key enzyme in leucine metabolism and ketone body synthesis. Acute episodes of 3‑HMG may be triggered by fasting or infection, and symptoms include vomiting, diarrhea, lethargy and hypotonia. If left untreated, prolonged hypoglycemia and metabolic acidosis may cause breathing problems, seizures, and coma. In addition, 3‑HMG is associated with damage to the central nervous system, and there are several reports of white matter abnormality or cerebral atrophy. The presence of bilateral basal ganglia damage in 3-HMG has been rarely reported. Here, we present a case report of a 20‑month old male with severe 3-HMG and prominent bilateral lesions in the basal ganglia.
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Copy and paste a formatted citation
Spandidos Publications style
Hao X, Wang J, Liu S, Chen Y, Zhang Y and Hao Y: 3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report. Exp Ther Med 11: 2573-2576, 2016.
APA
Hao, X., Wang, J., Liu, S., Chen, Y., Zhang, Y., & Hao, Y. (2016). 3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report. Experimental and Therapeutic Medicine, 11, 2573-2576. https://doi.org/10.3892/etm.2016.3243
MLA
Hao, X., Wang, J., Liu, S., Chen, Y., Zhang, Y., Hao, Y."3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report". Experimental and Therapeutic Medicine 11.6 (2016): 2573-2576.
Chicago
Hao, X., Wang, J., Liu, S., Chen, Y., Zhang, Y., Hao, Y."3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report". Experimental and Therapeutic Medicine 11, no. 6 (2016): 2573-2576. https://doi.org/10.3892/etm.2016.3243
Copy and paste a formatted citation
x
Spandidos Publications style
Hao X, Wang J, Liu S, Chen Y, Zhang Y and Hao Y: 3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report. Exp Ther Med 11: 2573-2576, 2016.
APA
Hao, X., Wang, J., Liu, S., Chen, Y., Zhang, Y., & Hao, Y. (2016). 3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report. Experimental and Therapeutic Medicine, 11, 2573-2576. https://doi.org/10.3892/etm.2016.3243
MLA
Hao, X., Wang, J., Liu, S., Chen, Y., Zhang, Y., Hao, Y."3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report". Experimental and Therapeutic Medicine 11.6 (2016): 2573-2576.
Chicago
Hao, X., Wang, J., Liu, S., Chen, Y., Zhang, Y., Hao, Y."3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report". Experimental and Therapeutic Medicine 11, no. 6 (2016): 2573-2576. https://doi.org/10.3892/etm.2016.3243
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