CLINICAL AND BIOCHEMICAL OUTCOME OF PATIENTS WITH VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Presented By: Valentina Rovelli1,2, MD, Krista Viau1,3, RD, Marzia Pasquali1,4, PhD, Nicola Longo1,4 , MD, PhD 1Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, UT, USA; 2Clinical Department of Pediatrics, University [...]
Successful orthotopic heart transplantation in CPTII deficiency Presented By: Georgianne L. Arnold, Elizabeth McCracken, Brian Feingold B, Jerry Vockley University of Pittsburgh Medical Center, Pittsburgh, PA USA Corresponding author: Georgianne.arnold4@chp.edu +1 412 692 5070 BACKGROUND: CPTII deficiency has variable presentation with hypoglycemia, rhabdomyolysis, [...]
A comparative multi-omic study to characterize VLCAD patient response to triheptanoin vs. medium chain triglyceride management Presented By: Ahmad Alodaib1, 2, Areeg El-Gharbawy1, Yu Leng Phua1, Melanie Gillingham3, Jerry Vockley1, 4 and Steven F. Dobrowolski5 1Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh [...]
Bioenergetics dysfunction and permeability transition induction triggered by fatty acids accumulated in VLCAD deficiency in a hepatocyte intact system and isolated mitochondria Presented By: Bianca Seminotti, PhD1,2*, Cristiane Cecatto, MSc1,2, Simone Magagnin Wajner, MD, PhD3, Alexandre Umpierrez Amaral, PhD4, Moacir Wajner, MD, PhD1,2,5 1Departamento de [...]
Novel genetic discoveries detected using whole exome sequencing and RNA transcriptomics in 14 patients diagnosed with Multiple Acyl-CoA Dehydrogenation Deficiency (MADD) Presented By: 1.Signe Mosegaard, MSc, Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark. Email: signe.mosegaard@clin.au.dk Phone: +45 20835507 Co-authors: [...]
SUMMARY OF 5-YEAR GENE PANEL STUDY FOR TARGET INHERITED METABOLIC DISEASES IN NEWBORN SCREENING - FATTY ACID OXIDATION DEFECTS – Presented By: 1,2Hideo Sasai M.D.,Ph.D., 1Yasuhiko Ago M.D.,1Hideki Matsumoto M.D., 1,2,3Hiroki Otsuka M.D., 4Junichi Hosokawa M.D.,Ph.D., 4Ryoji Fujiki Ph.D., 4Osamu Ohara Ph.D., 5Yoko Nakajima M.D.,Ph.D., [...]
A neonate with an acute presentation of glutaric aciduria type II with maternal liver disease Presented By: 1,2Anita, Inwood, BaRN, GradDip, MNP, anita.inwood@health.qld.gov.au, +61415674527 1Talhee Minto, MBBS 3Doug Thomas, MBBS, FRACP 3Haseena Mohamed, MBBS, FRACP 3Lauren Swan, MBBS 1,2David Coman, MBBS, FRACPA, HGSA, MPHIL, FRACP, [...]
Effect of trimetazidine on oxygen and fatty acid consumptions in very long chain acyl-CoA dehydrogenase deficient cells Presented By: Al-Walid Mohsen PhD1,2*, Anuradha Karunanidhi MS1, Yu Leng Phua PhD1, and Jerry Vockley MD, PhD1,2 1Department of Pediatrics and 2Department of Human Genetics, University of Pittsburgh, [...]
An infant presenting clinically with CPTII deficiency which was missed by standard newborn screening. Presented By: 1,2Anita, Inwood, BaRN, GradDip, MNP, anita.inwood@health.qld.gov.au, +61415674527 1Michelle Lipke, MBBS, FRACP, HGSA (clinical Geneticist), 1Kalli Demetriou, MBBS 1Talhee Minto, MBBS 3Gabriel Crisp, BaSc 1,2David Coman, MBBS, MPHIL, FRACP, HGSA [...]
Designer triglycerides: A practical approach to deliver alternative fatty acids to treat fatty acid oxidation disorders Presented By: Al-Walid Mohsen, PhD1,2,* ,Anuradha Karunanidhi, MS1, Clinton Van’t Land PhD1, and Ahmad AlodaibPhD1, Jerry Vockley, MD, PhD1,2 1Department of Pediatrics and 2Department of Human Genetics, University of [...]
