Congenital defects in folate utilization
TL;DR: Delays in maturation patterns of electroencephalograms was observed in rats treated with aminopterin in early infancy and in breast-fed infants whose mothers' serum folate levels were subnormal.
About: This article is published in The American Journal of Medicine.The article was published on 1970-05-01. It has received 77 citations till now.
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01 Sep 1973
TL;DR: The CRC Critical Reviews in Clinical Laboratory Sciences: Vol. 4, No. 3, No 3, pp 215-340 as discussed by the authors was the first publication of a comprehensive review of laboratory tests for the assessment of nutritional status.
Abstract: (1973). Laboratory Tests for the Assessment of Nutritional Status. CRC Critical Reviews in Clinical Laboratory Sciences: Vol. 4, No. 3, pp. 215-340.
458 citations
TL;DR: About 50 human genetic dis-eases due to defective enzymes can be remedied or ameliorated by the administration of high doses of the vitamin component of the corresponding coenzyme, which at least partially restores enzymatic activity.
308 citations
TL;DR: The studies discussed in this review support the view that biochemical and clinical symptoms common to both folate and vitamin B12 deficiency are due to the induction of a functional folate deficiency, which in turn is induced by cobalamin deprivation.
Abstract: The studies discussed in this review support the view that biochemical and clinical symptoms common to both folate and vitamin B12 deficiency are due to the induction of a functional folate deficiency, which in turn is induced by cobalamin deprivation. The interrelationship between these two vitamins is best explained by the methyl trap hypothesis stating that vitamin B12 deficiency can lead to lowered levels of methionine synthetase, which results in a functional folate deficiency by trapping an increased proportion of folate as the 5-methyl derivative. In addition, as 5-methyl-H4PteGlu is a poor substrate for folylpolyglutamate synthetase, there is a decreased synthesis of folylpolyglutamates and consequently a decreased retention of folates by tissues. The real folate deficiency that ensues because of decreased tissue folate levels is probably as important physiologically as the functional deficiency caused by the methyl trap. The sparing effect of methionine can be explained by adenosylmethionine inhibition of methylenetetrahydrofolate reductase, which would prevent the buildup of 5-methyl-H4PteGlun. A deficiency in vitamin B12 would not, in itself, be sufficient to cause a disturbance in folate metabolism. The deficiency would have to result in lowered methyltransferase levels before any such disturbance would be manifest.
288 citations
TL;DR: The role of Folic Acid Deficiency and Vitamin B1 Metabolism in Nonanemic Epileptic Patients, and Predisposing Factors, are discussed.
Abstract: Introduction .............................................................. Definition ................................................................. Predisposing Factors .......................................................... Classification .............................................................. TheNervousSystem ........................................................ Thecerebellum ......................................................... PeripheralNeuropathy .................................................... Subacute or Chronic Encephalopathy ........................................ Other Mental Symptoms .................................................... ....... ........................................... Folic Acid Deficiency ..................................................... MegaloblasticAnemia ..................................................... Folic Acid and Vitamin B1 Metabolism in Nonanemic Epileptic Patients ................................................ ClinicalImplicatio ns ...................................................... Neonatal Coagulation Defects .............................................. TheSkeletalSystem ........................................................ Metabolic Bone Disease and Vitamin D Deficiency ConnectiveTissue ........................................................... GumHypertrophy ....................................................... Facial Skin Changes .............. : .......................................
269 citations
01 Jan 1979
TL;DR: Anemia is probably the commonest effect of nutritional deficiency in human beings and has certainly been the most extensively studied.
Abstract: Anemia is probably the commonest effect of nutritional deficiency in human beings and has certainly been the most extensively studied. Iron deficiency is widely recognized as the most important cause of anemia in the world (Finch, 1969; Beaton, 1974).
160 citations
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01 Jan 2000
TL;DR: In this article, 42 authors share the herculean task of reviewing the flood of recent literature on pharmacology and rational use of drugs, under single or dual authorship they contribute the 76 chapters in the 18 sections.
Abstract: on pharmacology and the rational use of drugs, 42 authors share the herculean task of reviewing the flood of recent literature. Under single or dual authorship they contribute the 76 chapters in the 18 sections. The "liberal use of extract (fine) type as a space-saving device" allows nearly twice as much material under one cover. Although portions printed in smaller type "are of somewhat lesser importance," in most cases it will be necessary and profitable to read these. For example, extract type is used to narrate the historical background and to discuss complex structure-activity relationships, significant laboratory and clinical studies, the types of preparations, dosages and routes of administration, side effects and adverse reactions, and the therapeutic uses. Each chapter offers a complete and up-to-date review. Usually, enough information is given so that
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Journal Article•
344 citations
TL;DR: A 19 year old female with a clinical syndrome characterized by specific malabsorption of folate from the gut with resultant megaloblastic anemia associated with mental retardation and cerebral calcification is described.
81 citations
TL;DR: It seems likely that trapping of folate compounds at an N5 methyltetrahydrofolate level caused a functional deficiency of folates with sequence of development of a megaloblastic change in the bone marrow and of an impaired purine biosynthesis of the brain with a marked dilatation of cerebral ventricles.
Abstract: A probably new entity of metabolic error of folic acid was described of an infant whose clinical and biochemical characteristics were: 1) mental retarda-tion and a marked dilatation of cerebral ventricles, 2) abnormally high serum L. casei folate activity, 3) abnormally high levels of folate precursor in erythrocytes, and 4) a marked rise in reticulocyte count by an exogenous folate supplementation. The results of investigation on tetrahydrofolate-dependent enzymes of liver specimens revealed a decreased activity of N5 methyltetrahydrofolate transferase of our own patient. It seems therefore likely that an impaired utilization of N5 methyltetrahy-drofolate and its precursor in tissues due to a decreased activity of N5 methyl-tetrahydrofolate transferase led to an abnormal accumulation of N5 methyl-tetrahydrofolate and its precursor in serum and erythrocytes, and that trapping of folate compounds at an N5 methyltetrahydrofolate level caused a functional deficiency of folates with sequence of development of a megaloblastic change in the bone marrow and of an impaired purine biosynthesis of the brain with a marked dilatation of cerebral ventricles.
61 citations