Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency |
| |
| Authors: | S. Balasubramaniam,D. Bratkovic,D. Ketteridge,N. Manton,M. J. Cowley,V. Gayevskiy,T. Roscioli,M. Mohamed,T. Gardeitchik,E. Morava,J. Christodoulou |
| |
| Affiliation: | 1.Western Sydney Genetics Program,The Children’s Hospital at Westmead,Sydney,Australia;2.Genetic Metabolic Disorders Service, Western Sydney Genetics Program,The Children’s Hospital at Westmead,Westmead,Australia;3.Discipline of Genetic Medicine, Sydney Medical School,University of Sydney,Sydney,Australia;4.Discipline of Paediatrics & Child Health, Sydney Medical School,University of Sydney,Sydney,Australia;5.Genetic Metabolic Disorders Research Unit,The Children’s Hospital at Westmead, KRI,Sydney,Australia;6.Metabolic Unit, SA Pathology,Women’s and Children’s Hospital,North Adelaide,Australia;7.Department of Surgical Pathology, SA Pathology,Women’s and Children’s Hospital,North Adelaide,Australia;8.Kinghorn Centre for Clinical Genomics,Garvan Institute of Medical Research,Sydney,Australia;9.St Vincent’s Clinical School,University of New South Wales,Sydney,Australia;10.Department of Medical Genetics,Sydney Children’s Hospital,Randwick,Australia;11.Institute for Genetic and Metabolic Disease,Radboud University Medical Centre Nijmegen,Nijmegen,The Netherlands;12.Department of Pediatrics,Radboud University Medical Centre Nijmegen,Nijmegen,The Netherlands;13.Hayward Genetics Center,Tulane University Medical Center,New Orleans,USA;14.Murdoch Children’s Research Institute and Victorian Clinical Genetics Services,Royal Children’s Hospital,Melbourne,Australia;15.Department of Paediatrics,University of Melbourne,Melbourne,Australia |
| |
| Abstract: | Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)–congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade. Here, we further expand the list of inborn errors of metabolism associated with cutis laxa by describing the clinical presentation of a 17-month-old girl with Leigh-like syndrome due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency, a mitochondrial matrix enzyme that catalyzes the second step of the beta-oxidation spiral of fatty acids and plays an important role in amino acid catabolism, particularly valine. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
