Journal
NUTRIENTS
Volume 14, Issue 15, Pages -Publisher
MDPI
DOI: 10.3390/nu14153096
Keywords
folate transport; folate receptor autoantibodies; cerebral folate deficiency; inborn errors of folate metabolism; prenatal folate deficiency
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Cerebral folate deficiency syndrome is a neuropsychiatric or developmental disorder characterized by decreased CSF folate levels while having normal folate status outside the nervous system. Early recognition and intervention are crucial for improving prognosis.
Cerebral folate deficiency syndrome (CFDS) is defined as any neuropsychiatric or developmental disorder characterized by decreased CSF folate levels in the presence of normal folate status outside the nervous system. The specific clinical profile appears to be largely determined by the presence or absence of intrauterine folate deficiency as well as postnatal age at which cerebral folate deficiency occurs. The primary cause of CFDS is identified as the presence of serum folate receptor-alpha (FR alpha) autoantibodies impairing folate transport across the choroid plexus to the brain whereas, in a minority of cases, mitochondrial disorders, inborn errors of metabolism and loss of function mutations of the FR alpha (FOLR1) gene are identified. Early recognition and diagnosis of CFDS and prompt intervention is important to improve prognosis with successful outcomes. In this article we focus on FR alpha autoimmunity and its different age-dependent clinical syndromes, the diagnostic criteria, and treatments to be considered, including prevention strategies in this at-risk population.
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