A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure

Internal Medicine

Volumn 50, Issue 21, 2011, Pages 2663-2668

  Izumi, Rumiko ^a   Suzuki, Naoki ^a   Nagata, Mari ^a   Hasegawa, Takafumi ^a   Abe, Yu ^a   Saito, Yuka ^a   Mochizuki, Hiroshi ^b   Tateyama, Maki ^a   Aoki, Masashi ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b South Miyagi Medical Center   (Japan)

Author keywords

Acute renal failure; Electron transferring flavoprotein dehydrogenase (ETFDH); Lipid storage myopathy; Multiple acyl CoA dehydrogenase deficiency (MADD); Recurrent rhabdomyolysis; Riboflavin

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; CARBOXYLIC ACID; CARNITINE; RIBOFLAVIN;

ACUTE KIDNEY FAILURE; ADULT; ARTICLE; BLOOD LEVEL; CASE REPORT; DIFFERENTIAL DIAGNOSIS; EARLY DIAGNOSIS; ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LIPIDOSIS; LOW FAT DIET; MALE; MISSENSE MUTATION; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE BIOPSY; ONSET AGE; RHABDOMYOLYSIS; URINALYSIS;

ACUTE KIDNEY INJURY; DIAGNOSIS, DIFFERENTIAL; HUMANS; MALE; MIDDLE AGED; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; RECURRENCE; RHABDOMYOLYSIS; RIBOFLAVIN;

EID: 80455129320     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.50.5172     Document Type: Article

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