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Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum

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Abstract

We report a case with late onset riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency (MADD) characterized by decreased acyl-carnitine profile in serum which is consistent with primary systemic carnitine deficiency (CDSP) while just the contrary to a typical MADD. This patient complained with muscle weakness, muscle pain and intermittent vomiting, and was diagnosed as polymyositis, received prednisone therapy before consulted with us. Muscle biopsy revealed mild lipid storage. The findings of serum acyl-carnitines were consistent with CDSP manifesting as decreased free and total carnitines in serum. But oral l-carnitine supplementation was not very effective to this patient and mutation analysis of the SLC22A5 gene for CDSP was normal. Later, another acyl-carnitine analysis revealed a typical MADD profile in serum, which was characterized by increased multiple acyl-carnitines. Compound heterozygous mutations were identified in electron transferring-flavoprotein dehydrogenase (ETFDH) gene which confirmed the diagnosis of MADD. After administration of riboflavin, he improved dramatically, both clinically and biochemically. Thus, late onset riboflavin-responsive MADD should be included in the differential diagnosis for adult carnitine deficiency.

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Acknowledgments

We thank the patient and his family for their participation. This work was supported by the National Natural Science Foundation of China [Grant No. 81301071 and No. 81171182] and the Specialized Research Fund for the Doctoral Program of Higher Education (SRFDP) [Grant No. 20130131120066].

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Laboratory of Neuromuscular Disorders, Department of Neurology, Qilu Hospital, Shandong University, Jinan, 250012, China

    Bing Wen, Duoling Li, Wei Li, Yuying Zhao & Chuanzhu Yan

  2. Key Laboratory for Experimental Teratology of the Ministry of Education, Brain Science Research Institute, Shandong University, Jinan, 250012, China

    Chuanzhu Yan

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  1. Bing Wen
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  2. Duoling Li
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  3. Wei Li
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  4. Yuying Zhao
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Correspondence to Chuanzhu Yan.

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Wen, B., Li, D., Li, W. et al. Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum. Neurol Sci 36, 853–859 (2015). https://doi.org/10.1007/s10072-015-2197-y

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