Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.
Clin Genet
; 85(2): 184-8, 2014 Feb.
Article
em En
| MEDLINE
| ID: mdl-23509885
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Anormalidades Múltiplas
/
Condrodisplasia Punctata
/
Eritrodermia Ictiosiforme Congênita
/
Deformidades Congênitas dos Membros
/
Síndrome de Smith-Lemli-Opitz
/
Doenças Genéticas Ligadas ao Cromossomo X
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Portugal