VICTOR HERBERT, M.D.
Within 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
HERBERT V. Inborn Errors in Folate Metabolism—A Cause of Mental Retardation?. Ann Intern Med. ;68:956–958. doi: 10.7326/0003-4819-68-4-956
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Published: Ann Intern Med. 1968;68(4):956-958.
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