title: Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review.
abstract: BACKGROUND
  Glutaric acidemia type I (GA-I) is a rare metabolic disorder caused by mutation of the glutaryl- CoA dehydrogenase (GCDH) gene. The occurrence of rhabdomyolysis with GA-I is extremely rare.
  
  
  METHODS
  We reported a child with recurrent rhabdomyolysis and undiagnosed glutaric acidemia type I (GA-I). And a literature review was performed.
  
  
  RESULTS
  A 4.5-year-old girl was admitted to our hospital due to recurrent rhabdomyolysis for 3 times within three years. At the third admission, she was diagnosed with GA-I by biochemical testing and mutation analysis. The girl was found to have a serine to leucine replacement mutation of the GCDH gene in exon 8 at position 764. Other three patients with rhabdomyolysis and GA-I were discovered by literature searching.
  
  
  CONCLUSIONS
  This report highlights that patients with GA-I may have an increased risk of rhabdomyolysis.
authors.affiliation: Department of Inherited Metabolic Disease, Hangzhou, China.
authors.forename: Gu-Ling
authors.initials: GL
authors.lastname: Qian
authors.affiliation: Department of Inherited Metabolic Disease, Hangzhou, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Hong
authors.affiliation: Department of Inherited Metabolic Disease, Hangzhou, China.
authors.forename: Fan
authors.initials: F
authors.lastname: Tong
authors.affiliation: Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
authors.forename: Hai-Dong
authors.initials: HD
authors.lastname: Fu
authors.affiliation: Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
authors.forename: Ai-Min
authors.initials: AM
authors.lastname: Liu
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000150:complications / Q000235:genetics; D001707:Biopsy, Needle; D001928:Brain Diseases, Metabolic / Q000097:blood* / Q000150:complications / Q000235:genetics; D002331:Carnitine / Q000627:therapeutic use; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D050770:Glutaryl-CoA Dehydrogenase / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging / Q000379:methods; D035583:Rare Diseases; D012008:Recurrence; D012206:Rhabdomyolysis / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy*; D018570:Risk Assessment
chemical_list: D050770:Glutaryl-CoA Dehydrogenase; D002331:Carnitine
keywords: GCDH mutation; glutaric acidemia type I; rhabdomyolysis