Formiminoglutamic aciduria in a slightly retarded boy with chronic obstructive lung disease
- 1 December 1981
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 4 (1), 225-228
- https://doi.org/10.1007/bf02263657
Abstract
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.Keywords
This publication has 10 references indexed in Scilit:
- Ciliary motility in the ‘immotile cilia syndrome’Respiratory Medicine, 1980
- Metabolic Studies of a Family with Massive Formiminoglutamic AciduriaPediatric Research, 1975
- Folic acid non-dependent formiminoglutamic aciduria in two siblingsClinica Chimica Acta; International Journal of Clinical Chemistry, 1974
- Defect of Incorporation of Glycine-1-14C into Urinary Uric Acid in Formiminotransferase Deficiency SyndromeThe Tohoku Journal of Experimental Medicine, 1972
- Formiminotransferase Deficiency Syndrome Associated with Megaloblastic Anemia Responsive to Pyridoxine or Folic AcidThe Tohoku Journal of Experimental Medicine, 1968
- Familial Occurrence of Formiminotransferase Deficiency SyndromeThe Tohoku Journal of Experimental Medicine, 1968
- Formiminotransferase-deficiency syndrome: a new inborn error of folic acid metabolism.1965
- “Hyperfolic-acidemia with Formiminoglutamic-acjduria Following Histidine Loading”The Tohoku Journal of Experimental Medicine, 1963
- A Method for the Determination of Formiminoglutamic Acid in Urine1JCI Insight, 1958