Journal of Inherited Metabolic Disease

, Volume 28, Issue 3, pp 385–392 | Cite as

Congenital brain anomalies in distal cholesterol biosynthesis defects



Cholesterol is known to be a significant constituent of the central nervous system. It also plays an important role in developmental pathways to form the human brain, such as the Sonic Hedgehog pathway. Disturbances in the formation of cholesterol may therefore be expected to cause brain malformations and brain dysfunctions. Here a short review of the consequences of defects of the distal cholesterol pathways to brain formation and functioning is provided.


Cholesterol Nervous System Central Nervous System Human Brain Metabolic Disease 


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Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  1. 1.Department of Pediatrics and Clinical GeneticsAcademic Medical CenterAmsterdamThe Netherlands
  2. 2.Department of PediatricsAcademic Medical CenterAmsterdamThe Netherlands

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