Literature DB >> 7262105

A case of formiminoglutamic aciduria. Clinical and biochemical studies.

M Duran, D Ketting, P K de Bree, F J van Sprang, S K Wadman, T J Penders, R H Wilms.   

Abstract

We describe a boy who excreted massive amounts of formiminoglutamic acid and hydantoin-5-propionic acid in his urine. He was mildly mentally retarded and epileptic, whereas his twin-brother was completely normal. Loading with L-histidine enhanced the excretion of both metabolites. Treatment was attempted with high doses of folic acid and methionine, but both were without effect on the excretion levels.

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Year:  1981        PMID： 7262105     DOI： 10.1007/BF00443002

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  7 in total

1.  New methods for purification and separation of purines.

Authors:  F BERGMANN; S DIKSTEIN
Journal:  Methods Biochem Anal       Date:  1958

2.  Folic acid non-dependent formiminoglutamic aciduria in two siblings.

Authors:  A Niederwieser; P Giliberti; A Matasović; S Pluznik; B Steinmann; K Baerlocher
Journal:  Clin Chim Acta       Date:  1974-08-20       Impact factor: 3.786

3.  Metabolic studies of a family with massive formiminoglutamic aciduria.

Authors:  T L Perry; D A Applegarth; M E Evans; S Hansen; E Jellum
Journal:  Pediatr Res       Date:  1975-03       Impact factor: 3.756

4.  Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.

Authors:  A H van Gennip; D Y van Noordenburg-Huistra; P K de Bree; S K Wadman
Journal:  Clin Chim Acta       Date:  1978-05-16       Impact factor: 3.786

5.  Formiminotransferase-deficiency syndrome: a new inborn error of folic acid metabolism.

Authors:  T Arakawa; K Ohara; Y Takahashi; J Ogasawara; T Hayashi; R Chiba; Y Wada; K Tada; T Mizuno; T Okamura; T Yoshida
Journal:  Ann Paediatr       Date:  1965

6.  N-EPSILON-(CARBOXYMETHYL)LYSINE, A CONSTITUENT OF HUMAN URINE.

Authors:  S K Wadman; P K De Bree; F J Van Sprang; J P Kamerling; J Haverkamp; J F Vliegenthart
Journal:  Clin Chim Acta       Date:  1975-03-24       Impact factor: 3.786

7.  Hydantoin-5-propionic aciduria in folic acid nondependent formiminoglutamic aciduria observed in two siblings.

Authors:  A Niederwieser; A Matasović; B Steinmann; K Baerlocher; B Kempken
Journal:  Pediatr Res       Date:  1976-04       Impact factor: 3.756
  7 in total
  1 in total

1.  Formiminoglutamic/hydantoinpropionic aciduria in two siblings.

Authors:  M Duran; L Dorland; E E Meuleman; P A Renardel de Lavalette; B T Poll-The; R Berger
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  1 in total

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