Sterol metabolism disorders and neurodevelopment-an update.
Dev Disabil Res Rev
; 17(3): 197-210, 2013.
Article
em En
| MEDLINE
| ID: mdl-23798009
ABSTRACT
Cholesterol has numerous quintessential functions in normal cell physiology, as well as in embryonic and postnatal development. It is a major component of cell membranes and myelin, and is a precursor of steroid hormones and bile acids. The development of the blood brain barrier likely around 12-18 weeks of human gestation makes the developing embryonic/fetal brain dependent on endogenous cholesterol synthesis. Known enzyme defects along the cholesterol biosynthetic pathway result in a host of neurodevelopmental and behavioral findings along with CNS structural anomalies. In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that underlie the clinical presentations and course of Smith-Lemli-Opitz Syndrome (SLOS), mevalonic aciduria (MVA) or the milder version hyper-immunoglobulinemia D and periodic fever syndrome (HIDS), Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1), congenital hemidysplasia with icthyosiform nevus and limb defects (CHILD) syndrome, CK syndrome, sterol C4 methyl oxidase (SC4MOL) deficiency, X-linked dominant chondrodysplasia punctata 2(CDPX2)/ Conradi Hunermann syndrome, lathosterolosis and desmosterolosis, We also discuss current controversies and share thoughts on future directions in the field.
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Esteróis
/
Condrodisplasia Punctata
/
Síndrome de Smith-Lemli-Opitz
/
Erros Inatos do Metabolismo de Esteroides
/
Deficiência de Mevalonato Quinase
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Dev Disabil Res Rev
Assunto da revista:
TRANSTORNOS MENTAIS
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Estados Unidos