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A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
J Neurol Sci. 2015; 353(1-2):84-6.JN

Abstract

We report a novel mutation in the electron transfer flavoprotein dehydrogenase (EFTDH) gene in an adolescent Chinese patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) characterized by muscle weakness as early symptom. At the age of 9 years, the patient experienced progressive muscle weakness. Blood creatine kinase level and aminotransferase were higher than normal. The muscle biopsy revealed lipid storage myopathy. Serum acylcarnitine and urine organic acid analyses were consistent with MADD. Genetic mutation analysis revealed a compound heterozygous mutation in EFTDH gene. The patients showed good response to riboflavin and l-carnitine treatment.

Authors+Show Affiliations

Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China.Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China.Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China.Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China.Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China.Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China. Electronic address: 672262895@qq.com.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

25913573

Citation

Zhuo, Zhihong, et al. "A Case of Late-onset Riboflavin Responsive Multiple acyl-CoA Dehydrogenase Deficiency (MADD) With a Novel Mutation in ETFDH Gene." Journal of the Neurological Sciences, vol. 353, no. 1-2, 2015, pp. 84-6.
Zhuo Z, Jin P, Li F, et al. A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene. J Neurol Sci. 2015;353(1-2):84-6.
Zhuo, Z., Jin, P., Li, F., Li, H., Chen, X., & Wang, H. (2015). A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene. Journal of the Neurological Sciences, 353(1-2), 84-6. https://doi.org/10.1016/j.jns.2015.04.011
Zhuo Z, et al. A Case of Late-onset Riboflavin Responsive Multiple acyl-CoA Dehydrogenase Deficiency (MADD) With a Novel Mutation in ETFDH Gene. J Neurol Sci. 2015;353(1-2):84-6. PubMed PMID: 25913573.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene. AU - Zhuo,Zhihong, AU - Jin,Peina, AU - Li,Fengyan, AU - Li,Haiying, AU - Chen,Xiaoxin, AU - Wang,Huaili, Y1 - 2015/04/17/ PY - 2014/11/06/received PY - 2015/04/07/revised PY - 2015/04/10/accepted PY - 2015/4/28/entrez PY - 2015/4/29/pubmed PY - 2016/2/4/medline KW - EFTDH gene KW - Gene mutation KW - Lipid storage myopathy KW - Multiple acyl-CoA dehydrogenase deficiency KW - Muscle weakness KW - Riboflavin SP - 84 EP - 6 JF - Journal of the neurological sciences JO - J. Neurol. Sci. VL - 353 IS - 1-2 N2 - We report a novel mutation in the electron transfer flavoprotein dehydrogenase (EFTDH) gene in an adolescent Chinese patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) characterized by muscle weakness as early symptom. At the age of 9 years, the patient experienced progressive muscle weakness. Blood creatine kinase level and aminotransferase were higher than normal. The muscle biopsy revealed lipid storage myopathy. Serum acylcarnitine and urine organic acid analyses were consistent with MADD. Genetic mutation analysis revealed a compound heterozygous mutation in EFTDH gene. The patients showed good response to riboflavin and l-carnitine treatment. SN - 1878-5883 UR - https://www.unboundmedicine.com/medline/citation/25913573/A_case_of_late_onset_riboflavin_responsive_multiple_acyl_CoA_dehydrogenase_deficiency__MADD__with_a_novel_mutation_in_ETFDH_gene_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-510X(15)00208-7 DB - PRIME DP - Unbound Medicine ER -