Sterol metabolism disorders and neurodevelopment-an update.

[child syndrome]

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 (ABS 1 ), congenital hemidysplasia with icthyosiform nevus and limb defects (CHILD ) syndrome , CK syndrome , sterol C 4 methyl oxidase (SC 4 MOL ) deficiency , X-linked dominant chondrodysplasia punctata 2 (CDPX 2 )/ Conradi Hunermann syndrome , lathosterolosis and desmosterolosis , We also discuss current controversies and share thoughts on future directions in the field .

Diseases
Validation

Diseases presenting "known enzyme defects along the cholesterol biosynthetic pathway" symptom

child syndrome

You can validate or delete this automatically detected symptom