Folate-Responsive Neurologic Diseases

Djukic, Aleksandra

doi:10.1016/j.pediatrneurol.2007.09.001

Cited by 83 publications

(60 citation statements)

References 78 publications

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“…Folate plays a crucial role in the one-carbon metabolism for physiological nucleic acid synthesis and cell division, regulation of gene expression, amino acid metabolism and neurotransmitter synthesis [4]. In this study, we found significantly lower levels of folic acid levels in first trimester of pregnancy when compared to age matched controls.…”

Section: Discussionsupporting

confidence: 48%

“…During pregnancy, there is a significant increase in iron requirements due to increased red cell mass and fetoplacental growth [2]. Folic acid plays important role in fetal development [3] Folic acid plays a crucial role in the onecarbon metabolism for physiological nucleic acid synthesis and cell division, regulation of gene expression, amino acid metabolism and neurotransmitter synthesis [4]. During pregnancy, increased folate intake is required for rapid cell proliferation and tissue growth of the uterus and the placenta, growth of the fetus and expansion of the maternal blood volume [5].…”

Section: Introductionmentioning

confidence: 99%

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Thyroid Status, Iron, Folic Acid and Vitamin B12 Levels in Pregnancy

Baghel¹,

Batra²,

Kv³

et al. 2017

IOSR JDMS

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Section: Discussionsupporting

confidence: 48%

Section: Introductionmentioning

confidence: 99%

Thyroid Status, Iron, Folic Acid and Vitamin B12 Levels in Pregnancy

Baghel¹,

Batra²,

Kv³

et al. 2017

IOSR JDMS

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“…Additionally, low folate status during early pregnancy is a risk factor for neural tube defects (NTDs) in offspring. Folate deficiency has also been linked to a wide range of neurological conditions [ 3 ] as well as conditions as diverse as cancer [ 4 ], cardiovascular disease [ 5 ] and osteoporosis [ 6 ]. Nowadays, clinical laboratories almost exclusively use automated competitive protein binding (CPB) assays to measure folate.…”

Section: Introductionmentioning

confidence: 99%

Red cell or serum folate: what to do in clinical practice?

Farrell¹,

Kirsch

Herrmann

2013

Clinical Chemistry and Laboratory Medicine

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Folate deficiency has been linked to diverse clinical manifestations and despite the importance of accurate assessment of folate status, the best test for routine use is uncertain. Both serum and red cell folate assays are widely available in clinical laboratories; however, red cell folate is the more time-consuming and costly test. This review sought to evaluate whether the red cell assay demonstrated superior performance characteristics to justify these disadvantages. Red cell folate, but not serum folate, measurements demonstrated analytical variation due to sample pre-treatment parameters, oxygen saturation of haemoglobin and haematocrit. Neither marker was clearly superior in characterising deficiency but serum folate more frequently showed the higher correlation with homocysteine, a sensitive marker of deficiency. Similarly, both serum and red cell folate were shown to increase in response to folic acid supplementation. However, serum folate generally gave the greater response and was able to distinguish different supplementation doses. The C677T polymorphism of methylenetetrahydrofolate reductase alters the distribution of folate forms in red cells and may thereby cause further analytical variability in routine red cell folate assays. Overall, serum folate is cheaper and faster to perform than red cell folate, is influenced by fewer analytical variables and provides an assessment of folate status that may be superior to red cell folate.

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“…Since the 1940s, folate-deficient states and inborn errors of folate metabolism including defective transport have increasingly been recognized to play a role in the development of a macrocytic anemia, atherosclerosis, thrombosis, neuropsychiatric disorders, and neural tube defects (Surtees et al 1993). Clinical conditions associated with abnormal folate status range from malformations such as spina bifida to isolated disorders of cerebral function such as the cerebral folate deficiency (CFD) syndrome (Djukic 2007). Folate is known to occur in higher concentrations in CSF than plasma.…”

Section: Discussionmentioning

confidence: 99%

CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency

et al. 2015

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Hereditary folate malabsorption is characterized by folate deficiency with impaired folate transport into the central nervous system (CNS). This disease is characterized by megaloblastic anemia of early appearance, combined immunodeficiency, seizures, and cognitive impairment. The anemia and immunologic disease are responsive but neurological signs are refractory to folic-acid treatment. We report a 7-year-old girl who has congenital folate deficiency and SLC46A1 gene mutation who is unable to transport folate from her gut to the circulatory system and consequently from the blood to the cerebrospinal fluid (CSF). As a result she developed undetectable 5-methyltetrahydrofolate levels in her plasma and CSF and became immunocompromised and quite ill. Intramuscular treatment with 5-formyltetrahydrofolate (folinic acid) was therapeutic at her presentation and has been successful preventing other signs and symptoms of hereditary folate malabsorption even at relatively low CSF levels. Although difficult, early detection and diagnosis of cerebral folate deficiency are important because folinic acid at a pharmacologic dose may normalize outcome in PCFT gene defects, as well as bypass autoantibody-blocked folate receptors and enter the cerebrospinal fluid by way of the reduced folate carrier. This route elevates the 5-methyltetrahydrofolate level within the central nervous system and can prevent the neuropsychiatric disorder. CSF levels of 5-methyltetrahydrofolate between 18 and 46 nmol/L may be sufficient to eradicate CNS disease.

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Folate-Responsive Neurologic Diseases

Cited by 83 publications

References 78 publications

Thyroid Status, Iron, Folic Acid and Vitamin B12 Levels in Pregnancy

Thyroid Status, Iron, Folic Acid and Vitamin B12 Levels in Pregnancy

Red cell or serum folate: what to do in clinical practice?

CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency

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