In 1963 a probably new metabolic error of folic acid was reported by us under a term ‘formiminotransferase deficiency syndrome’. It was characterized by mental retardation, hyperfolic acidemia and urinary excretion of large amounts of formiminoglutamic acid (FIGLU) following an oral dose of L-histidine. The primary lesion was demonstrated to be a defective activity of formiminotransferase in liver tissues.
The present paper presented another type of metabolic error of folic acid which consisted of mental retardation, hyperfolic acidemia and the absence of FIGLU-uria following an oral dose of L-histidine. A marked decrease in cyclohydrolase activity was demonstrated in erythrocytes as well as liver tissues biopsied from three infants with this type of metabolic error of folate. A term ‘cyclohydrolase deficiency syndrome’ was suggested for this new entity.
Clinical findings, such as mental retardation, microcephaly and ventricular dilatation in pneumoencephalograms, in cyclohydrolase deficiency syndrome were also observed in formiminotransferase deficiency syndrome.
Hyperfolic acidemia was also a biochemical finding common to both the syndromes.
FIGLU-uria was observed in formiminotransferase deficiency, but absent in cyclohydrolase deficiency.
A definite diagnosis for formiminotransferase deficiency syndrome was made by demonstration of a decreased activity of formiminotransferase in either erythrocytes or liver tissues. In case of cyclohydrolase deficiency a marked decrease in cyclohydrolase activity in either erythrocytes or liver tissues should be demonstrated for a definite diagnosis for this syndrome.
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