A Case of Late Onset Riboflavin-responsive Multiple Acyl-CoA Dehydrogenase Deficiency Manifesting as Recurrent Rhabdomyolysis and Acute Renal Failure
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- Izumi Rumiko
- Department of Neurology, Tohoku University School of Medicine, Japan
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- Suzuki Naoki
- Department of Neurology, Tohoku University School of Medicine, Japan
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- Nagata Mari
- Department of Neurology, Tohoku University School of Medicine, Japan
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- Hasegawa Takafumi
- Department of Neurology, Tohoku University School of Medicine, Japan
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- Abe Yu
- Department of Medical Genetics, Tohoku University School of Medicine, Japan
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- Saito Yuka
- Department of Medical Genetics, Tohoku University School of Medicine, Japan
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- Mochizuki Hiroshi
- Department of Neurology, South Miyagi Medical Center, Japan
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- Tateyama Maki
- Department of Neurology, Tohoku University School of Medicine, Japan
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- Aoki Masashi
- Department of Neurology, Tohoku University School of Medicine, Japan
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We report an adult case of late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) characterized by episodic recurrent rhabdomyolysis and acute renal failure after the age of 46. Muscle biopsy revealed lipid storage myopathy and the finding of serum acylcarnitine and urine organic acid analyses were consistent with MADD. A compound heterozygous mutation was identified in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene, including a novel missense mutation, which confirmed the diagnosis of MADD. After administration of riboflavin and L-carnitine, the muscle weakness and fatigability gradually improved. Acylcarnitine and urine organic acid were also normalized after supplementation. Thus, MADD should be included in one of the differential diagnoses for adult recurrent rhabdomyolysis. Gene analysis is useful to confirm the diagnosis, and early diagnosis is important because riboflavin treatment has been effective in a significant number of patients with MADD.<br>
収録刊行物
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- Internal Medicine
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Internal Medicine 50 (21), 2663-2668, 2011
一般社団法人 日本内科学会
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詳細情報 詳細情報について
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- CRID
- 1390001204870710656
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- NII論文ID
- 130001288632
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- ISSN
- 13497235
- 09182918
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- Crossref
- CiNii Articles
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- 使用不可