Journal of Developmental Medicine(Electronic Version)  2014, Vol. 2 Issue (1): 28-31 DOI: |
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| The early diagnosis for maple syrup urine disease of neonates: report of two cases and review of literture |
| YU Wen-ting ,MAO Jian
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Shengjing Hospital Affiliated to China Medical University, Shenyang 110004,China
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Abstract 【Abstract】 Objective To analyze and summarize clinical manifestation, MRS findings and gene
characteristics of maple syrup urine disease（MSUD） of neonates, and proceed early screening, diagnosis and treatment．Method The MSUD neonates received tandem mass spectrum and gas chromatography examination, gene detection and the MRS examination. Result Their main clinical features are poor feeding, and nervous system and associated metabolic disorders. Two cases both received tandem mass spectrum and gas chromatography examination and met the diagnosis of MSUD. The gene testing showed both mutation of the BCKDHA gene. Their magnetic resonance showed a wide range of brain white matter involvement, especially the myelin sheath mature site and magnetic resonance spectroscopy showed an abnormal branchedchain amino acids (BCAA) and branched- chain alpha-keto acids (BCKA) peak at 0.99 ppm. Conclusion Newborns with MSUD often had early appeared non-specific symptoms with poor feeding, decreased responsiveness and convulsions．The specific manifestations of MRS and MR can help us to have an early diagnosis and treatment. The gene analysis of MSUD allowed preliminary understanding of gene mutations in the MSUD families and made prenatal diagnosis which is helpful for consultation in the second pregnancy.
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Received: 07 January 2014
Published: 06 September 2019
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