| Literature DB >> 6859916 |
A F Winder, L J Claringbold, R B Jones, B S Jay, N S Rice, R D Kissun, I S Menzies, J N Mount.
Abstract
Minor and major deficiencies of enzymes affecting galactose metabolism may be associated with cataracts of early onset. Results are presented for 10 such families with minor enzymatic disorders. Expression of the major disorders probably involves galactitol accumulation and osmotic lens damage but this mechanism is not obviously associated with minor disorders. The observed incidence of minor incomplete enzymatic disorders of galactose metabolism in families with an incidence of cataracts of early onset may be at least partly incidental.Entities:
Mesh:
Substances:
Year: 1983 PMID: 6859916 PMCID: PMC1627876 DOI: 10.1136/adc.58.5.362
Source DB: PubMed Journal: Arch Dis Child ISSN: 0003-9888 Impact factor: 3.791