Inborn Errors in Folate Metabolism—A Cause of Mental Retardation?
Authors: VICTOR HERBERT
Journal: Annals of Internal Medicine (1968)

Editorial Notes1 April 1968Inborn Errors in Folate Metabolism—A Cause of Mental Retardation?VICTOR HERBERT, M.D.VICTOR HERBERT, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-68-4-956 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptWithin the past 5 years, Arakawa and his associates (1-4) in Japan have described three separate congenital enzyme deficiencies characterized by similar clinical manifestations. These infants have in common mental retardation and abnormally high levels of folate activity in their serum, as measured by Lactobacillus casei microbiologic assay (5).In 1963 the first case was described (1) and attributed to formiminotransferase deficiency. In addition to menal retardation and hyperfolatemia, this syndrome was characterized by abnormal elevation of urinary formiminoglutamate (FIGLU) excretion after oral histidine. In a subsequent case (2) high urine FIGLU occurred without a histidine load. This case transiently...References1. ARAKAWAOHARAKUDOTADAHAYASHIMIZUNO TKZKTT: "Hyperfolic-acidemia with formiminoglutamicaciduria following histidine loading." Suggested for a case of congenital deficiency in formimino transferase. Tohoku J. Exp. Med. 80: 370, 1963. CrossrefMedlineGoogle Scholar2. ARAKAWAOHARATAKAHASHIOGASAWAREHAYASHICHIBAWADATADAMIZUNOOKAMURAYOSHIDA TKYJTRYKTTT: Formiminotransferase-deficiency syndrome: a new inborn error of folic acid metabolism. Ann. Paediat. (Basel) 205: 1, 1965. MedlineGoogle Scholar3. ARAKAWAFUJIIOHARAWATANABEKARAHASHIKOBAYASHIHIRONO TMKSMMH: Mental retardation with hyperfolicacidemia not associated with formiminoglutamicaciduria: cyclohydrolase deficiency syndrome. Tohoku J. Exp. Med. 88: 341, 1966. CrossrefMedlineGoogle Scholar4. ARAKAWANARISAWATANNOOHARAHIGASHIHONDATAMURAWADAMIZUNOHAYASHIHIROOKAOHNOIKEDA TKKKOYTYTTYTM: Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N5 methyltetrahydrofolate transferase deficiency. Tohoku J. Exp. Med. 93: 1, 1967. CrossrefMedlineGoogle Scholar5. HERBERT V: Aseptic additon method for Lactobacillus casei assay of folate activity in human serum. J. Clin. Path. 19: 12, 1966. CrossrefMedlineGoogle Scholar6. ARAKAWAFUJIIOHARA TMK: Erythrocyte formiminotransferase activity in formiminotransferase deficiency syndrome. Tohoku J. Exp. Med. 88: 195, 1966. CrossrefMedlineGoogle Scholar7. ARAKAWAFUJIIHIRONO TMH: Tetrahydrofolate-dependent enzyme activities of erythrocytes in formiminotransferase deficiency syndrome. Ibid., p. 305. Google Scholar8. ARAKAWAHIRONO TH: Aminoimidazolecarboxamide ribotide (AICAR)-transformylase of erythrocytes in formiminotransferase deficiency syndrome. Ibid., p. 161. Google Scholar9. ARAKAWAWADA TY: Urinary AICA (4-amino-5-imidazolecarboxamide) following an oral dose of AICA in formiminotransferase deficiency syndrome. Ibid., p. 99. Google Scholar10. HERBERT V: Drugs effective in megaloblastic anemias: vitamin B12 and folic acid, in The Pharmacological Basis of Therapeutics, 3rd ed., edited by GOODMAN, L. S., GILMAN, A., The Macmillan Co., New York, 1965, pp. 1410-1442. Google Scholar11. WOODARDNEWBERNE JCPM: Relation of vitamin B12 and one-carbon metabolism to hydrocephalus in the rat. J. Nutr. 88: 375, 1966. CrossrefMedlineGoogle Scholar12. HOGANO'DELLWHITLEY AGBLJR: Maternal nutrition and hydrocephalus in newborn rats. Proc. Soc. Exp. Biol. Med. 74: 293, 1950. CrossrefMedlineGoogle Scholar13. LUHBYEAGLEROTHCOOPERMAN ALFJEJM: Relapsing megaloblastic anemia in an infant due to a specific defect in gastrointestinal absorbtion of folic acid. Amer. J. Dis. Child. 102: 482, 1961. Google Scholar14. LANZKOWSKYERLANDSONBEZAN PMEAI: Isolated defect of gastrointestinal absorbtion of folic acid resulting in megaloblastic anemia, associated with mental retardation and cerebral calcification. American Pediatric Society Annual Meeting, Atlantic City, May 1968. Google Scholar15. HERBERT V: Experimental nutritional folate deficiency in man. Trans. Ass. Amer. Physicians 75: 307, 1962. MedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Mount Sinai School of Medicine New York, N. Y. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByNutrition, Brain Function and BehaviorFolic acid deficiency in the United States: Folate assays in a prenatal clinicEffects of Deficiencies of Folic Acid and Vitamin B12 on Central Nervous System Function and DevelopmentMechanism of Triamterene-Induced MegaloblastosisJOSÉ CORCINO, M.D., SAMUEL WAXMAN, M.D., VICTOR HERBERT, M.D.SERUM FOLATE IN PATIENS WITH MULTIPLE SCLEROSISFolic Acid Deficiency in Man 1 April 1968Volume 68, Issue 4Page: 956-958KeywordsEnzymesExcretionFolic acidInfantsIntellectual disabilityLactobacillusUrine Issue Published: 1 April 1968 PDF DownloadLoading ...