Formiminoglutamic aciduria in a slightly retarded boy with chronic obstructive lung disease

A 2-year-old boy excreted massive amounts of formiminoglutamic acid in urine. The substance was identified as authentic formiminoglutamic acid by two-dimensional thin-layer chromatography, column chromatography and enzymatic determination. After alkaline hydrolysis the substance was converted to glutamic acid. Serum amino acid concentrations were normal. The patient had normal serum and erythrocyte folate levels. The red blood cell picture was normal. The leukocytes showed slight hypersegmentation. From the age of 3 months he exhibited recurrent otitis media and severe pulmonary infections. He had a peculiar narrow-headed look and marked universal hypotonia. The mental development was slightly retarded. Glutamate formiminotransferase deficiency is postulated. The findings lend support to the theory of glutamate formiminotransferase deficiency being a rather benign disorder of metabolism.