Literature DB >> 7641773

Lens sorbitol dehydrogenase deficiency in a patient with congenital cataract.

V Vetter1, Y S Shin.   

Abstract

UNLABELLED: Lens sorbitol dehydrogenase activity was assayed in patients with congenital cataracts, senile cataracts, without cataracts and in one fetal lens. In patients with congenital cataracts we did not observe any abnormality of galactose and sorbitol metabolising enzymes in erythrocytes. In one of these patients with inexplicable congenital cataracts lens sorbitol dehydrogenase deficiency was found.
CONCLUSION: Determination of galactose metabolising enzymes, sorbitol dehydrogenase and polyols in lenses may help in understanding the mechanism of formation of inexplicable congenital cataracts.

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Year:  1995        PMID: 7641773     DOI: 10.1007/bf02072111

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


  11 in total

1.  A simple assay for galactokinase using DEAE-cellulose column chromatography.

Authors:  Y S Shin-Buehring; M Osang; R Ziegler; J Schaub
Journal:  Clin Chim Acta       Date:  1977-01-03       Impact factor: 3.786

2.  Inexplicable infantile cataracts and partial maternal galactose disorder.

Authors:  M Brivet; V Abadie; T Soni; G Cheron; J L Dufier
Journal:  Arch Dis Child       Date:  1986-05       Impact factor: 3.791

3.  Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract.

Authors:  J D Harley; P Mutton; S Irvine; J D Gupta
Journal:  Lancet       Date:  1974-08-03       Impact factor: 79.321

4.  Sorbitol dehydrogenase deficiency in a family with congenital cataracts.

Authors:  Y S Shin; M Rieth; W Endres; P Haas
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

5.  Assay of UDP-galactose 4-epimerase.

Authors:  Y S Shin; A von Rucker; M Rieth; W Endres
Journal:  Clin Chem       Date:  1982-11       Impact factor: 8.327

Review 6.  Galactose and cataract.

Authors:  D Stambolian
Journal:  Surv Ophthalmol       Date:  1988 Mar-Apr       Impact factor: 6.048

7.  Plasma polyol levels in patients with cataract.

Authors:  C Jakobs; A C Douwes; M Brockstedt; F Stellaard; W Endres; Y S Shin
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

8.  Direct and maternal aspects of the risk of cataract with partial disorders of galactose metabolism.

Authors:  A F Winder; A R Fielder; J N Mount; J S Menzies
Journal:  Clin Genet       Date:  1985-09       Impact factor: 4.438

9.  Partial galactose disorders in families with premature cataracts.

Authors:  A F Winder; L J Claringbold; R B Jones; B S Jay; N S Rice; R D Kissun; I S Menzies; J N Mount
Journal:  Arch Dis Child       Date:  1983-05       Impact factor: 3.791

10.  Red blood cell sorbitol dehydrogenase deficiency in a family with cataracts.

Authors:  G Vaca; B Ibarra; M Bracamontes; D García-Cruz; J Sánchez-Corona; C Medina; C Wunsch; G González-Quiroga; J M Cantú
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

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  1 in total

1.  UDPgalactose epimerase in lens and fibroblasts: activity expression in patients with cataracts and mental retardation.

Authors:  Y S Shin; G C Korenke; P Huppke; I Knerr; T Podskarbi
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

  1 in total

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