Abstract
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.
TY - JOUR
T1 - Galactose and cataract.
A1 - Stambolian,D,
PY - 1988/3/1/pubmed
PY - 1988/3/1/medline
PY - 1988/3/1/entrez
SP - 333
EP - 49
JF - Survey of ophthalmology
JO - Surv Ophthalmol
VL - 32
IS - 5
N2 - 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.
SN - 0039-6257
UR - https://www.unboundmedicine.com/medline/citation/3043741/Galactose_and_cataract_
L2 - https://linkinghub.elsevier.com/retrieve/pii/0039-6257(88)90095-1
DB - PRIME
DP - Unbound Medicine
ER -