Article
Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects.
Drug discovery today - 1 Dec 2012
Serrano Mercedes, Pérez-Dueñas Belén, Montoya Julio, Ormazabal Aida, Artuch Rafael
Abstract excerpt
Over the past decade, a syndrome consisting of low folate values in the cerebrospinal fluid (CSF) has been described. The syndrome has been associated with both genetic and acquired conditions that affect folate transport and metabolism and can result in severe neurological disorders. There is a wide range of underlying pathophysiological mechanisms, but a common feature in most patients is a good clinical...
Topics
- Betaine
- Cerebral Cortex
- Folic Acid
- Folic Acid Deficiency
- Genetic Predisposition to Disease
- Humans
- Intestinal Absorption
- Leucovorin
- Nervous System Diseases
- Tetrahydrofolates