A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene

Zhihong Zhuo; Peina Jin; Fengyan Li; Haiying Li; Xiaoxin Chen; Huaili Wang

doi:10.1016/j.jns.2015.04.011

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. doi: 10.1016/j.jns.2015.04.011. Epub 2015 Apr 17.

Authors

Zhihong Zhuo¹, Peina Jin¹, Fengyan Li¹, Haiying Li¹, Xiaoxin Chen¹, Huaili Wang²

Affiliations

¹ Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China.
² Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China. Electronic address: 672262895@qq.com.

PMID: 25913573
DOI: 10.1016/j.jns.2015.04.011

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.

Keywords: EFTDH gene; Gene mutation; Lipid storage myopathy; Multiple acyl-CoA dehydrogenase deficiency; Muscle weakness; Riboflavin.

Publication types

Case Reports

MeSH terms

Acyl-CoA Dehydrogenase / genetics*
Child
Cytoplasmic Vesicles / pathology
DNA Mutational Analysis
Female
Humans
Multiple Acyl Coenzyme A Dehydrogenase Deficiency / genetics*
Mutation / genetics*

Substances

Acyl-CoA Dehydrogenase