Article: Lens sorbitol dehydrogenase deficiency in a patient with congenital cataract

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.

Citing Articles

Eye involvement in inherited metabolic disorders.

Davison J Ther Adv Ophthalmol. 2021; 12:2515841420979109.

PMID: 33447730 PMC: 7780305. DOI: 10.1177/2515841420979109.

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

Shin Y, Korenke G, Huppke P, Knerr I, Podskarbi T J Inherit Metab Dis. 2000; 23(4):383-6.

PMID: 10896300 DOI: 10.1023/a:1005699719068.

References

1.

Stambolian D . Galactose and cataract. Surv Ophthalmol. 1988; 32(5):333-49. DOI: 10.1016/0039-6257(88)90095-1. View

2.

Shin Y, Rieth M, Endres W, Haas P . Sorbitol dehydrogenase deficiency in a family with congenital cataracts. J Inherit Metab Dis. 1984; 7 Suppl 2:151-2. DOI: 10.1007/978-94-009-5612-4_50. View

3.

Shin Y, von Rucker A, Rieth M, Endres W . Assay of UDP-galactose 4-epimerase. Clin Chem. 1982; 28(11):2332-3. View

4.

Vaca G, Ibarra B, Bracamontes M, Garcia-Cruz D, Sanchez-Corona J, Medina C . Red blood cell sorbitol dehydrogenase deficiency in a family with cataracts. Hum Genet. 1982; 61(4):338-41. DOI: 10.1007/BF00276598. View

5.

Winder A, Fielder A, Mount J, MENZIES J . Direct and maternal aspects of the risk of cataract with partial disorders of galactose metabolism. Clin Genet. 1985; 28(3):199-206. DOI: 10.1111/j.1399-0004.1985.tb00387.x. View

6.

Osang M, Ziegler R, Schaub J . A simple assay for galactokinase using DEAE-cellulose column chromatography. Clin Chim Acta. 1977; 74(1):1-5. DOI: 10.1016/0009-8981(77)90379-5. View

7.

Jakobs C, Douwes A, Brockstedt M, Stellaard F, Endres W, Shin Y . Plasma polyol levels in patients with cataract. J Inherit Metab Dis. 1990; 13(4):517-22. DOI: 10.1007/BF01799509. View

8.

Winder A, Claringbold L, Jones R, JAY B, Rice N, Kissun R . Partial galactose disorders in families with premature cataracts. Arch Dis Child. 1983; 58(5):362-6. PMC: 1627876. DOI: 10.1136/adc.58.5.362. View

9.

Brivet M, Abadie V, Soni T, Cheron G, Dufier J . Inexplicable infantile cataracts and partial maternal galactose disorder. Arch Dis Child. 1986; 61(5):445-8. PMC: 1777797. DOI: 10.1136/adc.61.5.445. View

10.

HARLEY J, MUTTON P, Irvine S, GUPTA J . Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract. Lancet. 1974; 2(7875):259-61. DOI: 10.1016/s0140-6736(74)91417-2. View

11.

Osang M, Ziegler R, Schaub J . A method for galactose-1-phosphate uridyltransferase assay and the separation of its isozymes by DEAE-cellulose column chromatography. Clin Chim Acta. 1976; 70(3):371-7. DOI: 10.1016/0009-8981(76)90349-1. View

Lens Sorbitol Dehydrogenase Deficiency in a Patient with Congenital Cataract