Literature DB >> 912103

Glucosephosphate isomerase deficiency type Liège: a new variant with congenital nonspherocytic hemolytic anemia.

H Arnold, J Dodinval-Versie, C Lambotte, G W Löhr, J van der Hofstadt.   

Abstract

GPI deficiency was detected in a three year old girl of Morrocan origin suffering, since birth, from hemolytic anemia. The defective GPI is very thermolabile and migrates on starch gel electrophoresis as a single band with a mobility of 96% of the normal main band. The purification of the patient's GPI resulted in a 16000-fold enriched preparation, free of any other enzyme activity. The yield was 35%. The purified enzyme was very unstable even at low temperature. The kinetic constants of the forward and backward reaction as well as the inhibitory constants of 2,3-DPG and 6-PG do not significantly differ from normal values. The biochemical properties of the patient's GPI indicate a new variant designated type Liége.

Entities:  

Mesh：

Year:  1977        PMID： 912103     DOI： 10.1007/bf00999459

Source DB:  PubMed          Journal:  Blut        ISSN： 0006-5242


  9 in total

1.  [Immunological studies on glucosephosphate isomerase deficiency: instability and impaired synthesis of the defective enzyme (author's transl)].

Authors:  H Arnold; M Seiberling; K G Blume; G W Löhr
Journal:  Klin Wochenschr       Date:  1975-12-01

2.  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

Review 3.  Hereditary glucosephosphate isomerase deficiency. A review.

Authors:  D E Paglia; W N Valentine
Journal:  Am J Clin Pathol       Date:  1974-12       Impact factor: 2.493

4.  Hereditary deficiency of glucosephosphate isomerase as a cause of nonspherocytic hemolytic anemia.

Authors:  G W Löhr; H Arnold; K G Blume; R Engelhardt; E Beutler
Journal:  Blut       Date:  1973-06

5.  Glucosephosphate isomerase deficiency: evidence for in vivo instability of an enzyme variant with hemolysis.

Authors:  H Arnold; K G Blume; R Engelhardt; G W Löhr
Journal:  Blood       Date:  1973-05       Impact factor: 22.113

6.  [Glucose phosphate isomerase type Recklinghausen: a new enzyme variant with haemolytic anaemia (author's transl)].

Authors:  H Arnold; R Engelhardt; G W Löhr; H Jacobi; I Liebold
Journal:  Klin Wochenschr       Date:  1973-12-15

7.  Glucose phosphate isomerase deficiency with hereditary nonspherocytic hemolytic anemia.

Authors:  J J Hutton; R R Chilcote
Journal:  J Pediatr       Date:  1974-10       Impact factor: 4.406

8.  Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). II. Purification and biochemical properties of the defective enzyme.

Authors:  H Arnold; K G Blume; G W Löhr; W Schröter; H H Koch; B Wonneberger
Journal:  Pediatr Res       Date:  1974-01       Impact factor: 3.756

9.  Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency--a new enzyme defect of human erythrocytes.

Authors:  M A Baughan; W N Valentine; D E Paglia; P O Ways; E R Simons; Q B DeMarsh
Journal:  Blood       Date:  1968-08       Impact factor: 22.113
  9 in total
  3 in total

Review 1.  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

2.  GPI Mount Scopus--a variant of glucosephosphate isomerase deficiency.

Authors:  O Shalev; R S Shalev; L Forman; E Beutler
Journal:  Ann Hematol       Date:  1993-10       Impact factor: 3.673

3.  Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis.

Authors:  A G Whitelaw; P A Rogers; D A Hopkinson; H Gordon; P M Emerson; J H Darley; C Reid; M A Crawfurd
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318
  3 in total

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