A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
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.
Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China.
Zhihong
Z
Zhuo
Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China.
Peina
P
Jin
Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China.
Fengyan
F
Li
Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China.
Haiying
H
Li
Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China.
Xiaoxin
X
Chen
Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China. Electronic address: 672262895@qq.com.
Huaili
H
Wang
D042964:Acyl-CoA Dehydrogenase / Q000235:genetics*; D002648:Child; D022162:Cytoplasmic Vesicles / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
D042964:Acyl-CoA Dehydrogenase
EFTDH gene; Gene mutation; Lipid storage myopathy; Multiple acyl-CoA dehydrogenase deficiency; Muscle weakness; Riboflavin