TY - JOUR
T1 - Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency
AU - Balasubramaniam, S.
AU - Riley, L. G.
AU - Bratkovic, D.
AU - Ketteridge, D.
AU - Manton, N.
AU - Cowley, M. J.
AU - Gayevskiy, V.
AU - Roscioli, T.
AU - Mohamed, M.
AU - Gardeitchik, T.
AU - Morava, E.
AU - Christodoulou, J.
N1 - Funding Information:
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. The authors wish to acknowledge the family and The Netherlands Organisation for Scientific Research (NWO project 017.008.052 to M.M.), and the Dutch Stofwisselkracht Foundation (TG) for their collaboration. S. Balasubramaniam, L. G. Riley, D. Bratkovic, D. Ketteridge, N. Manton, M. J. Cowley, V. Gayevskiy, T. Roscioli, M. Mohamed and T. Gardeitchik declare they have no conflict of interest. E. Morava is the Editor-in-Chief of the Journal of Inherited Metabolic Disease. J. Christodoulou is a communicating editor of the Journal of Inherited Metabolic Disease. 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.
Publisher Copyright:
© 2017, SSIEM.
PY - 2017/9/1
Y1 - 2017/9/1
N2 - 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.
AB - 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.
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U2 - 10.1007/s10545-017-0036-4
DO - 10.1007/s10545-017-0036-4
M3 - Article
C2 - 28409271
AN - SCOPUS:85017478050
SN - 0141-8955
VL - 40
SP - 745
EP - 747
JO - Journal of inherited metabolic disease
JF - Journal of inherited metabolic disease
IS - 5
ER -