title: Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.
abstract: In the last decades, nine inherited errors of the distal part of cholesterol biosynthesis have been recognized. Affected patients present complex malformation syndromes involving different organs and systems with variable degrees of severity. We report on the phenotype evolution of three patients with enzymatic defects at three distinct steps of such pathway: Smith-Lemli-Opitz syndrome, X-linked dominant chondrodysplasia punctata type 2 and congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome. The patients' natural history, from childhood to adulthood, is thoroughly described in order to contribute for a better knowledge of these diseases. Our ultimate goals are to contribute for a better characterization of the long-term course of these metabolic disorders and for the recognition of such diseases in older patients.
authors.affiliation: Department of Biological Sciences, Faculty of Pharmacy; Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.
authors.forename: M L
authors.initials: ML
authors.lastname: Cardoso
authors.forename: M
authors.initials: M
authors.lastname: Barbosa
authors.forename: D
authors.initials: D
authors.lastname: Serra
authors.forename: E
authors.initials: E
authors.lastname: Martins
authors.forename: A
authors.initials: A
authors.lastname: Fortuna
authors.forename: M
authors.initials: M
authors.lastname: Reis-Lima
authors.forename: A
authors.initials: A
authors.lastname: Bandeira
authors.forename: A
authors.initials: A
authors.lastname: Balreira
authors.forename: F
authors.initials: F
authors.lastname: Marques
mesh_terms: D000015:Abnormalities, Multiple / Q000503:physiopathology*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000096:biosynthesis; D002806:Chondrodysplasia Punctata / Q000503:physiopathology*; D018450:Disease Progression; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000503:physiopathology*; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000503:physiopathology*; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000503:physiopathology*; D008297:Male; D010641:Phenotype; D019082:Smith-Lemli-Opitz Syndrome / Q000503:physiopathology*
chemical_list: D002784:Cholesterol
keywords: CDPX2; CHILD syndrome; Smith-Lemli-Opitz syndrome; inborn errors of cholesterol biosynthesis; metabolic diseases