title: A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experience.
abstract: BACKGROUND
  Lipin 1 gene (LPIN1) mutations lead to cellular energy deficiency and cause up to 50% of the rhabdomyolysis episodes seen in pediatric patients. These episodes are associated with poor prognosis, as treatment options have been limited. We propose a novel therapeutic strategy based on prevention and early treatment of catabolism.
  
  
  METHODS
  Five patients were diagnosed with LPIN1 mutations. They were instructed to maintain high caloric intake in situations possibly leading to catabolism such as viral infections or excessive physical activity. When an episode of rhabdomyolysis occurred, patients were treated with intravenous high-concentration glucose at first symptoms.
  
  
  RESULTS
  The therapeutic strategies described limited the number of rhabdomyolyis episodes, and the duration of episodes was reduced from 7-10 days, as reported in the literature, to 5 days.
  
  
  CONCLUSIONS
  In this small series, patients with LPIN1 mutations appear to have benefited from prevention and early treatment of catabolism.
authors.affiliation: Department of Pediatrics, Clinic for Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, A-6020, Innsbruck, Austria.
authors.forename: Karin
authors.initials: K
authors.lastname: Pichler
authors.affiliation: Department of Pediatrics, Clinic for Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, A-6020, Innsbruck, Austria.
authors.forename: Sabine
authors.initials: S
authors.lastname: Scholl-Buergi
authors.affiliation: Department of Pediatrics, General Hospital Villach, Villach, Austria.
authors.forename: Robert
authors.initials: R
authors.lastname: Birnbacher
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria.
authors.forename: Michael
authors.initials: M
authors.lastname: Freilinger
authors.affiliation: Department of Pediatrics, Clinic for Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, A-6020, Innsbruck, Austria.
authors.forename: Simon
authors.initials: S
authors.lastname: Straub
authors.affiliation: Department of Pediatrics, Clinic for Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, A-6020, Innsbruck, Austria.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Brunner
authors.affiliation: Institute of Human Genetics, Medical University of Innsbruck, Innbruck, Austria.
authors.forename: Johannes
authors.initials: J
authors.lastname: Zschocke
authors.affiliation: Center for Anatomy and Cell Biology, Department of Applied Anatomy, Medical University of Vienna, Vienna, Austria.
authors.forename: Reginald E
authors.initials: RE
authors.lastname: Bittner
authors.affiliation: Department of Pediatrics, Clinic for Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, A-6020, Innsbruck, Austria.
authors.forename: Daniela
authors.initials: D
authors.lastname: Karall
mesh_terms: D000768:Anesthesia, General / Q000009:adverse effects; D001317:Austria; D002648:Child; D002675:Child, Preschool; D004035:Diet Therapy / Q000379:methods*; D002149:Energy Intake; D005260:Female; D005440:Fluid Therapy / Q000379:methods*; D005947:Glucose / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D009043:Motor Activity; D009154:Mutation; D010711:Phosphatidate Phosphatase / Q000235:genetics; D012206:Rhabdomyolysis / Q000209:etiology / Q000517:prevention & control* / Q000628:therapy; D013549:Sweetening Agents / Q000627:therapeutic use*; D016896:Treatment Outcome; D014777:Virus Diseases / Q000150:complications
chemical_list: D013549:Sweetening Agents; C485999:LPIN1 protein, human; D010711:Phosphatidate Phosphatase; D005947:Glucose
keywords: LPIN1 mutation; children; common infection; energetic deficiency; rhabdomyolysis