Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.

Autor: Karaa A; Massachusetts General Hospital, Genetics Division Harvard Medical School Boston, Boston, MA, USA. AKARAA@mgh.harvard.edu., Bertini E; Neuromuscular Unit, Bambino Gesù Ospedale Pediatrico, IRCCS, Rome, Italy., Carelli V; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Programma Di Neurogenetica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Cohen B; Akron Children's Hospital, Rebecca D. Considine Research Institute, Akron, OH, USA., Ennes GM; Stanford University School of Medicine, Stanford, CA, USA., Falk MJ; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Mitochondrial Medicine Frontier Program, Philadelphia, PA, USA., Goldstein A; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Mitochondrial Medicine Frontier Program, Philadelphia, PA, USA., Gorman G; Royal Victoria Infirmary, Newcastle Upon Tyne, England., Haas R; University of California, San Diego, La Jolla, CA, USA., Hirano M; Columbia University Irving Medical Center, New York, NY, USA., Klopstock T; Department of Neurology, LMU Hospital, Friedrich-Baur-Institute, Ludwig-Maximilians-Universität Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Koenig MK; Department of Pediatrics, Division of Child and Adolescent Neurology, Center for the Treatment of Pediatric Neurodegenerative Disease, University of Texas McGovern Medical School, Houston, TX, USA., Kornblum C; Department of Neurology, University Hospital of Bonn, Neuromuscular Diseases Section, Bonn, Germany., Lamperti C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lehman A; Vancouver General Hospital, Vancouver, BC, Canada., Longo N; University of Utah, Salt Lake City, UT, USA., Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Parikh S; Cleveland Clinic Neurological Institute, Cleveland, OH, USA., Phan H; Rare Disease Research, Atlanta, GA, USA., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Saneto R; Seattle Children's Hospital, Seattle, WA, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Sha Tin, Hong Kong SAR, China., Servidei S; Fondazione Policlinico Universitario A. Gemelli and Istituto Di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy., Tarnopolsky M; Division of Neuromuscular and Neurometabolic Disorders, McMaster University Children's Hospital, Hamilton, ON, Canada., Toscano A; Department of Clinical and Experimental Medicine, ERN-NMD Center for Neuromuscular Disorders of Messina, University of Messina, Messina, Italy., Van Hove JLK; University of Colorado and Children's Hospital Colorado, Aurora, CO, USA., Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Vockley J; Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Finman JS; Jupiter Point Pharma Consulting, LLC, Jupiter, CT, USA., Abbruscato A; Stealth BioTherapeutics, Needham, MA, USA., Brown DA; Stealth BioTherapeutics, Needham, MA, USA., Sullivan A; Stealth BioTherapeutics, Needham, MA, USA., Shiffer JA; Write On Time Medical Communications, LLC, Medford, NJ, USA., Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 21; Vol. 19 (1), pp. 431. Date of Electronic Publication: 2024 Nov 21.

An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.

Autor: Starosta RT; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA., Larson AA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA., Meeks NJL; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Gracie S; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA., Friederich MW; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Gaughan SM; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA., Baker PR 2nd; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA., Knupp KG; Department of Pediatrics, Section of Pediatric Neurology, University of Colorado, Aurora, CO, USA., Michel CR; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Reisdorph R; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3052, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3052, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Wood T; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Van Hove JLK; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA. Electronic address: Johan.Vanhove@childrenscolorado.org.

Publikováno v: Mitochondrion [Mitochondrion] 2024 Nov; Vol. 79, pp. 101973. Date of Electronic Publication: 2024 Oct 15.

ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.

Autor: Van Hove JLK; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA. Electronic address: Johan.Vanhove@childrenscolorado.org., Friederich MW; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3052, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Victoria 3052, Australia., Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3052, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Victoria 3052, Australia., Caruana NJ; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3052, Australia., Christians U; iC42 Clinical Research and Development, Department of Anesthesiology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Schniedewind B; iC42 Clinical Research and Development, Department of Anesthesiology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Michel CR; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Reisdorph R; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Lopez Gonzalez EDJ; Department of Diabetes and Cancer Metabolism, Beckman Research Institute, City of Hope, Duarte, CA 91010, USA., Brenner C; Department of Diabetes and Cancer Metabolism, Beckman Research Institute, City of Hope, Duarte, CA 91010, USA., Donovan TE; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Lee JC; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA., Chatfield KC; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA; Department of Pediatrics, Section of Cardiology, University of Colorado, Aurora, CO, USA., Larson AA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA., Baker PR 2nd; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA., McCandless SE; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA., Moore Burk MF; Department of Physical Medicine and Rehabilitation, Children's Hospital Colorado, 13121 East 16(th) Avenue, Aurora, CO, USA.

Publikováno v: Mitochondrion [Mitochondrion] 2024 Sep; Vol. 78, pp. 101905. Date of Electronic Publication: 2024 May 24.

Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.

Autor: Shelkowitz E; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Education 2 South, L28-4114, East 17Th Avenue, Aurora, CO, 80045, USA., Saneto RP; Division of Pediatric Neurology, Department of Neurology, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle Children's Hospital, Seattle, WA, 98105, USA., Al-Hertani W; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Lubout CMA; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center, Groningen, Groningen, The Netherlands., Stence NV; Department of Radiology, University of Colorado, Aurora, CO, USA., Brown MS; Department of Radiology, University of Colorado, Aurora, CO, USA., Long P; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Education 2 South, L28-4114, East 17Th Avenue, Aurora, CO, 80045, USA., Walleigh D; Section of Child Neurology, Department of Pediatrics, University of Colorado, Aurora, CO, USA., Nelson JA; Section of Child Neurology, Department of Pediatrics, University of Colorado, Aurora, CO, USA., Perez FE; Department of Radiology, Seattle Children's Hospital, University of Washington, Seattle, WA, USA., Shaw DWW; Department of Radiology, Seattle Children's Hospital, University of Washington, Seattle, WA, USA., Michl EJ; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Van Hove JLK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Education 2 South, L28-4114, East 17Th Avenue, Aurora, CO, 80045, USA. Johan.Vanhove@childrenscolorado.org.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Dec 05; Vol. 17 (1), pp. 423. Date of Electronic Publication: 2022 Dec 05.

Dual diagnosis of UQCRFS1 -related mitochondrial complex III deficiency and recessive GJA8 -related cataracts.

Autor: Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA., Huang SJ; Department of Medical Genetics, Marshfield Clinic, Marshfield, WI 54449, USA., Khan A; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA., Golden-Grant K; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Boyd B; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA., Rosenthal EA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Gillentine MA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA., Fleming LR; Department of Genetics, Saint Luke's Genetics and Metabolic Clinic, Boise, ID 83712, USA., Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA., Wolfe L; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA., Allworth A; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Bamshad MJ; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Caruana NJ; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia., Chanprasert S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Chen J; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA., Dargie N; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Doherty D; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Friederich MW; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Hisama FM; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Horike-Pyne M; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Lee JC; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA., Donovan TE; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia., Leppig KA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Miller DE; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA., Mirzaa G; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA., Ranchalis J; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Raskind WH; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Michel CR; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Reisdorph R; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Schwarze U; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA., Sheppeard S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Strohbehn S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia., Sybert VP; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Wener MH; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.; Department of Rheumatology, University of Washington, Seattle, WA 98195, USA., Stergachis AB; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Lam CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Jarvik GP; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Dipple KM; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Van Hove JLK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Glass IA; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

Publikováno v: Rare (Amsterdam, Netherlands) [Rare] 2024; Vol. 2. Date of Electronic Publication: 2024 Aug 14.