Living with inborn errors of cholesterol biosynthesis: lessons from adult patients

• Published in: Clinical genetics Vol. 85; no. 2; pp. 184 - 188
• Main Authors: Cardoso, M.L., Barbosa, M., Serra, D., Martins, E., Fortuna, A., Reis-Lima, M., Bandeira, A., Balreira, A., Marques, F.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-02-2014
• Subjects: Abnormalities, Multiple - physiopathology; Adolescent; Adult; Biosynthesis; CDPX2; Child; CHILD syndrome; Child, Preschool; Children; Cholesterol; Cholesterol - biosynthesis; Chondrodysplasia Punctata - physiopathology; Disease Progression; Female; Genetic Diseases, X-Linked - physiopathology; Genetic disorders; Humans; Ichthyosiform Erythroderma, Congenital - physiopathology; inborn errors of cholesterol biosynthesis; Infant, Newborn; Limb Deformities, Congenital - physiopathology; Male; metabolic diseases; Metabolic disorders; Phenotype; Smith-Lemli-Opitz syndrome; Smith-Lemli-Opitz Syndrome - physiopathology; Studies; CDPX2; Smith-Lemli-Opitz syndrome; CHILD syndrome; inborn errors of cholesterol biosynthesis; metabolic diseases
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/cge.12139

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.