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One cause of cerebral folate deficiency is a mutation in a gene responsible for folate transport, specifically FOLR1. [2] [4] This is inherited in an autosomal recessive manner. [2] Other causes appear to be Kearns–Sayre syndrome [5] and autoantibodies to the folate receptor. [6] [7] [8]
The causes of cerebral folate deficiency include mutations of genes responsible for folate metabolism and transport. [23] Mutations of the SLC46A1 gene that encodes the proton-coupled folate transporter (PCFT) result in CFD syndromes with both systemic folate deficiency and cerebral folate deficiency.
Kearns-Sayre patients are consistently found to have cerebral folate deficiency, a syndrome in which 5-MTHF levels are decreased in the cerebrospinal fluid despite being normal in serum. [5] Treatment with folinic acid can in some cases alleviate the associated symptoms and partially correct associated brain abnormalities, especially if started ...
Patients present with cerebral folate deficiency, a condition in which there are reduced levels of 5-MTHF in the cerebrospinal fluid. However, contrary to other causes of cerebral folate deficiency, the use of folinic acid for treatment may be contraindicated due to excess levels of folinic acid in the organism of patients. [3]
Many causes of autism, including environmental and genetic factors, have been recognized or proposed, but understanding of the theory of causation of autism is incomplete. [1] Attempts have been made to incorporate the known genetic and environmental causes into a comprehensive causative framework. [ 2 ]
Dihydrofolate reductase deficiency (DHFR deficiency) is a rare inherited disorder of folate metabolism caused by defects in the DHFR gene. The disorder is inherited in the autosomal recessive manner and may present with megaloblastic anemia, cerebral folate deficiency and neurological symptoms of varying type and severity. The patient may have ...