Lens sorbitol dehydrogenase deficiency in a patient with congenital cataract
- PMID: 7641773
- DOI: 10.1007/BF02072111
Lens sorbitol dehydrogenase deficiency in a patient with congenital cataract
Abstract
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.
Similar articles
-
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. J Inherit Metab Dis. 1984. PMID: 6434875 No abstract available.
-
Red blood cell sorbitol dehydrogenase deficiency in a family with cataracts.Hum Genet. 1982;61(4):338-41. doi: 10.1007/BF00276598. Hum Genet. 1982. PMID: 7152518
-
Aldose reductase in diabetic cataracts.JAMA. 1981 Jul 17;246(3):257-61. JAMA. 1981. PMID: 6787220 No abstract available.
-
[Sorbitol dehydrogenase (SDH)].Nihon Rinsho. 2004 Dec;62 Suppl 12:827-9. Nihon Rinsho. 2004. PMID: 15658461 Review. Japanese. No abstract available.
-
[Sorbitol route of glucose metabolism and complication of diabetes mellitus].Probl Endokrinol (Mosk). 1980 May-Jun;26(3):86-90. Probl Endokrinol (Mosk). 1980. PMID: 6773043 Review. Russian. No abstract available.
Cited by
-
UDPgalactose epimerase in lens and fibroblasts: activity expression in patients with cataracts and mental retardation.J Inherit Metab Dis. 2000 Jun;23(4):383-6. doi: 10.1023/a:1005699719068. J Inherit Metab Dis. 2000. PMID: 10896300 No abstract available.
-
Eye involvement in inherited metabolic disorders.Ther Adv Ophthalmol. 2020 Dec 29;12:2515841420979109. doi: 10.1177/2515841420979109. eCollection 2020 Jan-Dec. Ther Adv Ophthalmol. 2020. PMID: 33447730 Free PMC article. Review.
References
MeSH terms
Substances
LinkOut - more resources
Medical