title: Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects.
abstract: 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 response to folate therapy, especially when the syndrome is diagnosed early. In this review, we focus our attention on the genetic diseases leading to profound cerebral folate deficiency (CFD) and review current clinical, metabolic and therapeutic approaches.
authors: Neuropediatrics and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, Center for Biomedical Research in Rare Diseases (CIBERER-ISCIII), Barcelona, Spain.
authors: Mercedes
authors: M
authors: Serrano
authors: Belén
authors: B
authors: Pérez-Dueñas
authors: Julio
authors: J
authors: Montoya
authors: Aida
authors: A
authors: Ormazabal
authors: Rafael
authors: R
authors: Artuch
mesh_terms: D001622:Betaine / Q000008:administration & dosage / Q000627:therapeutic use; D002540:Cerebral Cortex / Q000187:drug effects / Q000378:metabolism*; D005492:Folic Acid / Q000134:cerebrospinal fluid / Q000378:metabolism / Q000493:pharmacokinetics / Q000627:therapeutic use; D005494:Folic Acid Deficiency / Q000134:cerebrospinal fluid / Q000188:drug therapy* / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007408:Intestinal Absorption / Q000235:genetics; D002955:Leucovorin / Q000008:administration & dosage / Q000627:therapeutic use; D009422:Nervous System Diseases / Q000134:cerebrospinal fluid / Q000188:drug therapy* / Q000235:genetics*; D013763:Tetrahydrofolates / Q000008:administration & dosage / Q000627:therapeutic use
chemical_list: D013763:Tetrahydrofolates; D001622:Betaine; D005492:Folic Acid; D002955:Leucovorin; C005984:5-methyltetrahydrofolate