Literature DB >> 7228040

Combined erythrocyte glucosephosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in an Italian family.

H Arnold, G W Löhr, K Hasslinger, R Ludwig.   

Abstract

A severe hemolytic crisis was observed in a 5-year-old boy of Italian origin. Analysis of his hemolysate revealed a hemizygous deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a heterozygous deficiency of glucosephosphate isomerase (GPI). According to the literature this is the fourth family with a combined deficiency of these two enzymes located on different chromosomes. Only the G6PD deficiency seems to be responsible for the hemolytic crisis.

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Year:  1981        PMID： 7228040     DOI： 10.1007/bf00282031

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  15 in total

1.  Improved method for the determination of blood glutathione.

Authors:  E BEUTLER; O DURON; B M KELLY
Journal:  J Lab Clin Med       Date:  1963-05

2.  Enzymatic deficiency in primaquine-sensitive erythrocytes.

Authors:  A S ALVING; P E CARSON; C L FLANAGAN; C E ICKES
Journal:  Science       Date:  1956-09-14       Impact factor: 47.728

3.  The hemolytic effect of primaquine. VII. Biochemical studies of drug-sensitive erythrocytes.

Authors:  E BEUTLER; R J DERN; C L FLANAGAN; A S ALVING
Journal:  J Lab Clin Med       Date:  1955-02

Review 4.  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

5.  Combined erythrocyte phosphohexose isomerase and glucose-6-phosphate dehydrogenase deficiency.

Authors:  N Sanpitak; Y Supalert; L Chayutimonkul; G Flatz
Journal:  Hum Hered       Date:  1973       Impact factor: 0.444

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.  Inherited variations in human phosphohexose isomerase.

Authors:  J C Detter; P O Ways; E R Giblett; M A Baughan; D A Hopkinson; S Povey; H Harris
Journal:  Ann Hum Genet       Date:  1968-05       Impact factor: 1.670

8.  Combined glucosephosphate isomerase and glucose-6-phosphate dehydrogenase deficiency of the erythrocytes: a new haemolytic syndrome.

Authors:  W Schröter; G Brittinger; E Zimmerschmitt; E König; D Schrader
Journal:  Br J Haematol       Date:  1971-03       Impact factor: 6.998

9.  Combined glucose phosphate isomerase and glucose-6-phosphate dehydrogenase deficiency of erythrocytes.

Authors:  I Steiman; S Kaufman; J L Zaidman; H Leiba
Journal:  Isr J Med Sci       Date:  1978-11

10.  Chromosome assignments in man of the genes for two hexosephosphate isomerases.

Authors:  F A McMorris; T R Chen; F Ricciuti; J Tischfield; R Creagan; F Ruddle
Journal:  Science       Date:  1973-03-16       Impact factor: 47.728
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