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Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency

Mehdi Yeganeh1, Kaitlin March1, Catherine Jones1

  • 1Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver V6H 3N1, BC, Canada.

Molecular Genetics and Metabolism Reports
|March 21, 2023
PubMed

Insights

LPIN1 deficiency causes severe rhabdomyolysis in children. Intravenous dexamethasone effectively treated a toddler with LPIN1 deficiency, preventing complications and shortening hospital stays.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • LPIN1 deficiency is an autosomal recessive disorder causing severe childhood rhabdomyolysis.
  • LPIN1 influences inflammatory responses via PPARα and PGC-1α pathways.
  • Corticosteroids like dexamethasone are potential treatments.
Abstract

Keywords:
DexamethasoneHereditary rhabdomyolysisLPIN1

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