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Results for “FOLIC ACID DEFICIENCY”

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PubMed2004

Cerebral folate deficiency.

Cerebral folate deficiency (CFD) can be defined as any neurological syndrome associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. CFD could result from either disturbed folate transport or from increased folate turnover within the central nervous system (CNS). We report on a novel neurometabolic syndrome in 20 children, which we term 'idiopathic CFD'. Typical features became manifest from the age of 4 months, starting with marked unrest, irritability, and sleep disturbances followed by psychomotor retardation, cerebellar ataxia, spastic paraplegia, and dyskinesia; epilepsy developed in about one third of the children. Most children showed deceleration ofhead growth from the age of 4 to 6 months. Visual disturbances began to develop around the age of 3 years and progressive sensorineural hearing loss started from the age of 6 years. Neuroimaging showed atrophy of frontotemporal regions and periventricular demyelination in seven children, slowly progressive supra- and infratentorial atrophy in three children, and normal findings in the remainder. Because active folate transport to the CNS occurs through receptor-mediated folate receptor protein 1 (FR1) endocytosis, DNA sequencing of the FR1 gene was performed and found to be normal. However, CSF protein analysis revealed a non-functional FR1 protein, suspected to result from either post-translational defects of FR1 protein N-glycosylation, the presence of folate antagonists with irreversible binding, or autoantibodies blocking the folate binding site of FR1. Oral treatment with 5-formyltetrahydrofolate (folinic acid) should be started in low doses at 0.5-1mg/kg/day, but in some patients higher daily doses of folinic acid at 2-3 mg/kg/day are required to normalize CSF 5MTHF values. This proposed treatment protocol resulted in a favourable clinical response in patients identified before the age of six years while partial recovery with poorer outcome was found beyond the age of 6 years. Careful clinical and EEG monitoring should be performed 1, 3, and 6 months after the beginning of treatment. After four to six months of folinic acid treatment, CSF analysis should be repeated in order to prevent over- or under-dosage of folinic acid. Secondary forms of CFD have been recognized during chronic use of antifolate and anticonvulsant drugs and in various known conditions such as Rett syndrome, Aicardi-Goutières syndrome, 3-phosphoglycerate dehydrogenase deficiency, dihydropteridine reductase deficiency, aromatic amino acid decarboxylase deficiency, and Kearns-Sayre syndrome. The pathogenic link between these underlying specific disease entities and the observed secondary CFD has not been resolved.

Brain↗
PubMed1994

Severe folate deficiency causes secondary depletion of choline and phosphocholine in rat liver.

It has previously been shown that choline deficiency causes depletion of hepatic folate concentration in rats. Two separate experiments were undertaken to investigate the converse phenomenon: whether folate deficiency would lead to depletion of hepatic choline. In Experiment 1, severe folate deficiency was induced in rats by feeding an amino acid-defined diet containing (per kg diet) 1.4 g choline, 0 mg folate and 10 g succinylsulfathiazole. Control rats were fed the same diet containing 8 mg folate/kg. After 4 wk, plasma and hepatic folate concentrations were significantly depleted in the severely folate-deficient rats compared with controls (P < 0.001), and hepatic choline and phosphocholine concentrations were 65 and 80% lower, respectively (P < 0.001). In Experiment 2, moderate folate deficiency was induced in rats by feeding the same diet as described above, but with the succinylsulfathiazole omitted. After 24 wk, significant systemic folate deficiency was present in the moderately folate-deficient rats compared with controls (P < 0.001). A modest reduction (36%, P = 0.087) in hepatic choline concentration was observed in the moderately folate-deficient rats compared with controls. No significant differences in hepatic phosphocholine concentrations were detected between the two groups. These results indicate that severe folate deficiency causes secondary hepatic choline deficiency in rats.

Animals↗
PubMed1979

Folates of rat tissue. Bioassay of tissue folylpolyglutamates and a relationship of liver folypolyglutamates to nutritional folate sufficiency.

The folate content of young rat tissues extracted into boiling ascorbate was assayed by Lactobactillus casei both without and after treatment by a folate-free preparation of conjugase. The total folate content of various tissues was: liver, 8.9 microgram/g; kidney, 2.6; adrenal, 2.6; bone marrow, 2.4; spleen, 0.9; erythrocytes, 0.8; small intestinal mucosa, 0.7; small intestinal smooth muscle, 0.8; heart, 0.6; brain, 0.4, and skeletal muscle, 0.1 microgram/g tissue. For most tissues, with the exception of muscle and kidney, approximately 80% of the total folates assayed as longer chain length folylpolyglutamates. When liver folates were analyzed from rats fed folate-supplemented, control and folate-deficient diets, a relationship was found between folate nutrition and distribution of folylpolyglutamates. The proportion of total folates in the form of longer chain length folylpolyglutamates was greatest in the livers of folate-deficient rats and least in the livers of folate-supplemented rats.

Animals↗
PubMed2003

Folate deficiency, mismatch repair-dependent apoptosis, and human disease.

The vitamin that is most commonly deficient in the American diet is folate. Severe folate deficiency in humans is known to cause megaloblastic anemia and developmental defects, and is associated with an increased incidence of several forms of human cancer. Although the exact mechanisms by which this vitamin deficiency may cause these diseases are not known at the present time, recent work has shown that folate deficiency also causes genomic instability and programmed cell death (or apoptosis). Additionally, it is known that the DNA mismatch repair pathway mediates folate deficiency-induced apoptosis. This review will first describe work suggesting that folate deficiency causes genomic instability and apoptosis, then discuss possible mechanisms by which the mismatch repair pathway could trigger folate deficiency-induced apoptosis, which has either protective or destructive effects on tissue.

Apoptosis↗
PubMed1976

Correlations between the deoxyuridine-suppressed value and some conventional haematological parameters in patients with folate or vitamin B12 deficiency.

The correlations between the deoxyuridine-suppressed value and some conventional haematological parameters (Hb concentration, red cell count, MCV, total white cell count, red cell folate level and serum vitamin B12 level) have been investigated in 40 patients with megaloblastic haemopoiesis due to folate or vitamin B12. deficiency. The only statistically significant correlations found were (a) an inverse correlation between the deoxyuridine-suppressed value and the Hb level or red cell count in both the folate- and vitamin B12-deficient groups and (b) a direct correlation between the deoxyuridine-suppressed value and MCV in the vitamin B12-deficient group. The results indicated that the deoxyuridine-suppressed value was a better index of the magnitude of the disturbance in red cell production induced by folate or vitamin B12 deficiency than either the red cell folate or serum vitamin B12 levels.

Bone Marrow↗
PubMed1990

Serum homocysteine in routine evaluation of potential vitamin B12 and folate deficiency.

Total serum homocysteine (Hcy) was measured in patients with either low serum folate, low serum vitamin B12 (B12), or potential metabolic defects, in order to evaluate Hcy as an indicator of the tissue status of the two vitamins. An increased Hcy supported the diagnosis of frank tissue deficiency in those patients in whom tissue deficiency was evident by other means. A Hcy within the reference interval enabled the clinician to identify those patients whose low serum vitamin level and symptoms did not reflect a tissue deficiency of B12 or folate of clinical consequence. Children with inherited disturbances of B12 metabolism, and whose serum B12 was within the reference interval, were correctly identified by an increased Hcy. A declining Hcy was evidence of correction of a deficiency even when other laboratory or clinical measurements of a response were obscured.

Adult↗
PubMed1987

[Assessment of the nutritional status of Algerian women in the reproductive age living in an urban, rural and semi-rural area].

We assessed the nutritional status of 302 menstruating women living in three urban, semi-rural and rural areas of eastern Algeria. The anthropometric data and the biochemical measurements (serum levels of total proteins, albumin, transferrin and prealbumin) have shown the absence of protein malnutrition and the evidence of problems of overweight, whatever the criterion used (body mass index or relative weight). There were no differences according to the residence. Anemia (defined by WHO references) was observed in 28% of urban women, 19% of semi-rural women and in 32% of rural women. Iron deficiency (defined by the association of serum ferritin level of 12 micrograms/l or less and transferrin saturation less than 15%) was observed in 29, 27 and 22% of the cases, respectively. Folate deficiency (defined by concentration of red blood cell folates of less than 100 micrograms/l) was observed in 48, 45 and 22% of cases, respectively. Finally, 81% of anemia were associated with biochemical evidence of iron and/or folate deficiency.

Adult↗
PubMed2002

Homocysteine, folate deficiency, and Parkinson's disease.

Folate deficiency sensitizes mice to dopaminergic neurodegeneration and motor dysfunction caused by the neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP). Additional experiments indicate that this effect of folate deficiency may be mediated by homocysteine. These findings suggest that folate deficiency and hyperhomocysteinemia are risk factors for Parkinson's disease.

1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine↗
PubMed1993

Pancreatic one-carbon metabolism in early folate deficiency in rats.

An amino acid-defined, folate-deficient diet was used to investigate the regulation of pancreatic glycine N-methyltransferase in vivo. This enzyme modulates the ratio of S-adenosylmethionine to S-adenosylhomocysteine and is inhibited by bound folate in vitro. Rats were fed either a folate-deficient diet, a folate-supplemented diet (pair-fed to the deficient group), or a folate supplemented diet ad libitum and measurements were made after 2, 3, and 4 wk. Folate concentrations were greatly reduced in the folate-deficient pancreas after only 2 wk and pancreatic glycine N-methyltransferase activity was elevated but the amount of immunologically measured enzyme protein was the same. The ratio of S-adenosylmethionine to S-adenosylhomocysteine was rapidly reduced in the deficient pancreas. This ratio was also reduced with age in the ad libitum control rats. The pancreas of deficient rats had more immature secretory granules and the ducts were devoid of secreted material.

Analysis of Variance↗