Karin Pichler1, Sabine Scholl-Buergi1, Robert Birnbacher2, Michael Freilinger3, Simon Straub1, Jürgen Brunner1, Johannes Zschocke4, Reginald E Bittner5, Daniela Karall1. 1. Department of Pediatrics, Clinic for Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, A-6020, Innsbruck, Austria. 2. Department of Pediatrics, General Hospital Villach, Villach, Austria. 3. Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria. 4. Institute of Human Genetics, Medical University of Innsbruck, Innbruck, Austria. 5. Center for Anatomy and Cell Biology, Department of Applied Anatomy, Medical University of Vienna, Vienna, Austria.
Abstract
INTRODUCTION: 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. CONCLUSION: In this small series, patients with LPIN1 mutations appear to have benefited from prevention and early treatment of catabolism.
INTRODUCTION: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. CONCLUSION: In this small series, patients with LPIN1 mutations appear to have benefited from prevention and early treatment of catabolism.
Authors: Seema R Lalani; Pengfei Liu; Jill A Rosenfeld; Levi B Watkin; Theodore Chiang; Magalie S Leduc; Wenmiao Zhu; Yan Ding; Shujuan Pan; Francesco Vetrini; Christina Y Miyake; Marwan Shinawi; Tomasz Gambin; Mohammad K Eldomery; Zeynep Hande Coban Akdemir; Lisa Emrick; Yael Wilnai; Susan Schelley; Mary Kay Koenig; Nada Memon; Laura S Farach; Bradley P Coe; Mahshid Azamian; Patricia Hernandez; Gladys Zapata; Shalini N Jhangiani; Donna M Muzny; Timothy Lotze; Gary Clark; Angus Wilfong; Hope Northrup; Adekunle Adesina; Carlos A Bacino; Fernando Scaglia; Penelope E Bonnen; Jane Crosson; Jessica Duis; Gustavo H B Maegawa; David Coman; Anita Inwood; Jim McGill; Eric Boerwinkle; Brett Graham; Art Beaudet; Christine M Eng; Neil A Hanchard; Fan Xia; Jordan S Orange; Richard A Gibbs; James R Lupski; Yaping Yang Journal: Am J Hum Genet Date: 2016-01-21 Impact factor: 11.025
Authors: I A Meijer; F Sasarman; C Maftei; E Rossignol; M Vanasse; P Major; G A Mitchell; C Brunel-Guitton Journal: Mol Genet Metab Rep Date: 2015-11-08
Authors: Sau Wing Yim; Tina Yee Ching Chan; Kiran M Belaramani; Sze Shun Man; Felix Chi Kin Wong; Sammy Pak Lam Chen; Hencher Han Chih Lee; Chloe Miu Mak; Chor Kwan Ching Journal: F1000Res Date: 2019-09-02