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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.
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]
The CSF folate level is usually undetectable at the time of diagnosis. Even when the blood folate level is corrected, or far above normal, the CSF folate level remains low, consistent with impaired transport across the choroid plexus. The normal CSF folate level in children over the first three years of life is in the 75 to 150 nM range.
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 ...
Folate deficiency is accelerated by alcohol consumption, possibly by interference with folate transport. [112] Folate deficiency may lead to glossitis, diarrhea, depression, confusion, anemia, and fetal neural tube and brain defects. [98] Other symptoms include fatigue, gray hair, mouth sores, poor growth, and swollen tongue. [111]
Vitamin B12 deficiency symptoms . Vitamin B12 deficiency has a few hallmark symptoms, according to doctors: Lack of energy. Mental fatigue. Nausea, vomiting, or diarrhea. Lack of appetite. Weight loss
2.5 Creatine transport or metabolism. 2.6 Carnitine biosynthesis. 2.7 Purine and pyrimidine metabolism. 2.8 Lysosomal storage. 2.9 DNA. ... Cerebral folate deficiency