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Syndromic forms of cutis laxa, however, are caused by diverse genetic defects, mostly coding for structural extracellular matrix proteins. Surprisingly a number of metabolic disorders have been also found to be associated with inherited cutis laxa. Menkes disease was the first metabolic disease reported with old\u2010looking, wrinkled skin. Cutis laxa has recently been found in patients with abnormal glycosylation. The discovery of the COG7 defect in patients with wrinkled, inelastic skin was the first genetic link with the Congenital Disorders of Glycosylation (CDG). Since then several inborn errors of metabolism with cutis laxa have been described with variable severity. These include P5CS, ATP6V0A2\u2010CDG and PYCR1 defects. In spite of the evolving number of cutis laxa\u2010related diseases a large part of the cases remain genetically unsolved. In metabolic cutis laxa syndromes the clinical and laboratory features might partially overlap, however there are some distinct, discriminative features. In this review on metabolic diseases causing cutis laxa we offer a practical approach for the differential diagnosis of metabolic cutis laxa syndromes.<\/jats:p>","DOI":"10.1007\/s10545-011-9305-9","type":"journal-article","created":{"date-parts":[[2011,3,22]],"date-time":"2011-03-22T09:12:07Z","timestamp":1300785127000},"page":"907-916","source":"Crossref","is-referenced-by-count":68,"title":["Metabolic cutis laxa syndromes"],"prefix":"10.1002","volume":"34","author":[{"given":"Miski","family":"Mohamed","sequence":"first","affiliation":[{"name":"Institute for Genetic and Metabolic Disease Radboud University Medical Centre Nijmegen P.O Box 9101 Nijmegen HB 6500 The Netherlands"},{"name":"Department of Pediatrics Radboud University Medical Centre Nijmegen P.O Box 9101 Nijmegen HB 6500 The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorus","family":"Kouwenberg","sequence":"additional","affiliation":[{"name":"Institute for Genetic and Metabolic Disease Radboud University Medical Centre Nijmegen P.O Box 9101 Nijmegen HB 6500 The Netherlands"},{"name":"Department of Pediatrics Radboud University Medical Centre Nijmegen P.O Box 9101 Nijmegen HB 6500 The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thatjana","family":"Gardeitchik","sequence":"additional","affiliation":[{"name":"Institute for Genetic and Metabolic Disease Radboud University Medical Centre Nijmegen P.O Box 9101 Nijmegen HB 6500 The Netherlands"},{"name":"Department of Pediatrics Radboud University Medical Centre Nijmegen P.O Box 9101 Nijmegen HB 6500 The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Kornak","sequence":"additional","affiliation":[{"name":"Max Planck Institute for Molecular genetics Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ron 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