Galactose and cataract.
Galactosemia is a disorder caused by a deficiency of any one of three possible enzymes involved in the metabolism of galactose: galactokinase, transferase or epimerase. Any single deficient enzyme can result in cataract through the accumulation of galactitol in the lens. The ophthalmologist may play an important role in this disease, since early recognition of cataract development followed by the initiation of a galactose-free diet may lead to clearing of lenticular opacities. The clinical and laboratory findings that distinguish the three enzyme deficiency disorders of galactosemia are discussed. The biochemical genetics of each enzyme also are reviewed, along with the recent evidence linking heterozygous galactokinase deficiency and presenile cataract.
D000818:Animals; D002386:Cataract / Q000209:etiology*; D005260:Female; D005686:Galactokinase / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D005690:Galactose / Q000378:metabolism*; D005693:Galactosemias / Q000150:complications / Q000628:therapy; D005796:Genes; D006801:Humans; D008722:Methods; D008967:Molecular Biology; D011247:Pregnancy; D011248:Pregnancy Complications / Q000628:therapy; D014534:UDPglucose 4-Epimerase / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency / Q000235:genetics / Q000378:metabolism
D005686:Galactokinase; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D014534:UDPglucose 4-Epimerase; D005690:Galactose