Neurometabolic disease

    loading  Checking for direct PDF access through Ovid

Abstract

Advances in knowledge of neurometabolic disease continues. Of great interest to the neurologist are the definitions of the molecular defects in Niemann‐Pick C disease, Refsum disease, and five of the disorders of peroxisome biogenesis, including rhizomelic chondrodysplasia punctata. Duplication of the proteolipid protein gene is the most common molecular abnormality in Pelizaeus Merzbacher disease. Therapies for guanidinoacetate methyltransferase deficiency and for 3‐phosphoglycerated dehydrogenase deficiency appear promising. Animal models have been developed for X‐linked adrenoleukodystrophy, metachromatic leukodystrophy and Zellweger syndrome and will aid in the understanding of pathogenesis and the evaluation of therapy. Curr Opin Neurol 11:91-95. © 1998 Rapid Science Ltd

Related Topics

    loading  Loading Related Articles