Journal article
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency
S Balasubramaniam, LG Riley, D Bratkovic, D Ketteridge, N Manton, MJ Cowley, V Gayevskiy, T Roscioli, M Mohamed, T Gardeitchik, E Morava, J Christodoulou
Journal of Inherited Metabolic Disease | SPRINGER | Published : 2017
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 def..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
This research was supported by a New South Wales Office of Health and Medical Research Council Sydney Genomics Collaborative grant (JC) and NHMRC project grant 1026891 (JC). We are grateful to the Crane and Perkins families for their generous financial support. The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.