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World Journal of Pediatrics

, Volume 12, Issue 3, pp 368–371 | Cite as

Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review

  • Gu-Ling Qian
  • Fang Hong
  • Fan Tong
  • Hai-Dong Fu
  • Ai-Min Liu
Case Report
  • 181 Downloads

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.

Key words

GCDH mutation glutaric acidemia type I rhabdomyolysis 

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Copyright information

© Children's Hospital, Zhejiang University School of Medicine and Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Gu-Ling Qian
    • 1
  • Fang Hong
    • 1
  • Fan Tong
    • 1
  • Hai-Dong Fu
    • 2
  • Ai-Min Liu
    • 2
  1. 1.Department of Inherited Metabolic DiseaseHangzhouChina
  2. 2.Department of NephrologyChildren’s Hospital, Zhejiang University School of MedicineHangzhouChina

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