Literature DB >> 241517

A new variant of glucosephosphate isomerase deficiency (GPI-Utrecht).

J P Van Biervliet, L Van Milligen-Boersma, G E Staal.   

Abstract

A new case of glucosephosphate isomerase deficiency is described in a Dutch family. The activity of the enzyme was decreased to 20-25% of the normal value. Characterization of the defect enzyme showed a pronounced thermolability. Heating of the enzyme at 45 degrees C showed a loss of activity of 90% after one hour. The pH-optimum and the electrophoretic migration were normal. The Km-value for F-6-P, the Ki for the competitive inhibitors 2,3-DPG and 6-PG were in the normal range. The variant described here differs from all known variants. Therefore we propose to give to this new variant the name of GPI-Utrecht.

Entities:  

Mesh：

Substances：

Year:  1975        PMID： 241517     DOI： 10.1016/0009-8981(75)90103-5

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  7 in total

Review 1.  Advances in hereditary red cell enzyme anomalies.

Authors:  A Kahn; J C Kaplan; J C Dreyfus
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

2.  Glucosephosphate isomerase deficiency, a new variant in a Dutch family. Case report.

Authors:  J J Rotteveel; G A de Vaan; G E Staal; J P van Biervliet; E D Schretlen
Journal:  Eur J Pediatr       Date:  1977-04-26       Impact factor: 3.183

3.  A new variant of glucosephosphate isomerase deficiency.

Authors:  J P Van Biervliet; A Vlug; H Bartstra; J J Rotteveel; G A de Vaan; G E Staal
Journal:  Humangenetik       Date:  1975-10-20

4.  Biochemical genetics of a new glucosephosphate isomerase allele (Gpi-1c) from wild mice.

Authors:  R A Padua; G Bulfield; J Peters
Journal:  Biochem Genet       Date:  1978-02       Impact factor: 1.890

Review 5.  Inherited glucosephosphate isomerase deficiency. A review of known variants and some aspects of the pathomechanism of the deficiency.

Authors:  H Arnold
Journal:  Blut       Date:  1979-12

Review 6.  [Enzyme deficiencies in glycolysis and nucleotide metabolism of red blood cells in nonspherocytic hemolytic anemia (author's transl)].

Authors:  H D Waller; H C Benöhr
Journal:  Klin Wochenschr       Date:  1976-09-01

7.  Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis.

Authors:  A Kahn; H A Buc; R Girot; D Cottreau; C Griscelli
Journal:  Hum Genet       Date:  1978-02-16       Impact factor: 4.132
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.