Background: Neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurometabolic disease whose treatment consists of enzyme replacement therapy (ERT) performed through syringe pump connected to catheter surgically implanted in the cerebral ventricle. The brought about change natural history these patients. However, there are several barriers implementation this therapy.

OBJECTIVE: To review the underlying pathophysiologic processes of concussive brain injury and relate these neurometabolic changes to clinical sports-related issues such as injury to the developing brain, overuse injury, and repeated concussion. DATA SOURCES: Over 100 articles from both basic science and clinical medical literature selected for relevance to concussive brain injury, postinjury pa...

Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare but treatable neurometabolic disorder of lipid storage and bile acid synthesis. Whilst CTX said to present with the classic triad juvenile onset cataracts, tendon xanthomata progressive ataxia, diversity presentation can be such that diagnosis may substantially delayed resulting in permanent neurological disability. Methods A re...

how to cite this article: ahmadabadi f. neurometabolic registry site in iran. iran j child neurol autumn 2012; 6:4 (suppl. 1): 21. pls see pdf.

how to cite this article: mohammadi m. clinical neurophysiology in pediatric neurometabolic disorders. iran j child neurol autumn 2014;8:4 (suppl.1):7. pls see pdf.

The strategic position of astrocytic processes between blood capillaries and neurons, provided the early insight that astrocytes play a key role in supplying energy substrates to neurons in an activity-dependent manner. The central role of astrocytes in neurometabolic coupling has been first established at the level of single cell. Since then, exciting recent work based on cellular imaging and ...