Galactosemic cataract - Wikipedia
The presence of presenile cataract, noticeable in galactosemic infants as young as a few days old, is highly associated with two distinct types of galactosemia: GALT deficiency and to a greater extent, GALK deficiency.
Galactose and cataract - ScienceDirect
1988年3月1日 · 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.
Galactose and cataract - Survey of Ophthalmology
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.
Galactose and cataract - PubMed
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 …
Galactokinase Deficiency - EyeWiki
Galactokinase deficiency, commonly referred to as Type II Galactosemia, is one of four recognized inborn errors of galactose metabolism—also referred to as galactosemias. This autosomal recessive mutation of the galactokinase enzyme results in the accumulation of galactitol, a metabolite associated with galactose metabolism.
Inborn Errors of Galactose Metabolism - EyeWiki
Inborn errors of galactose metabolism, also known as galactosemias, include any disorder that interferes with galactose metabolism, leading to the accumulation of metabolites, mainly galactitol, responsible for syndromic symptoms.
Cataracts in Galactosemia | JAMA Ophthalmology - JAMA Network
Cataracts in Galactosemia. WARREN A. WILSON, M.D.; GEORGE N. DONNELL, M.D. Author Affiliations. Los Angeles. From the Departments of Surgery (Ophthalmology) (Dr. Wilson) and Pediatrics (Dr. Donnell), University of Southern California School of Medicine and The Childrens Hospital of Los Angeles.
Galactosemic Cataract | Encyclopedia MDPI
2022年11月3日 · The presence of presenile cataract, noticeable in galactosemic infants as young as a few days old, is highly associated with two distinct types of galactosemia: GALT deficiency and to a greater extent, GALK deficiency.
Galactosemia Cataract: A Review - ScienceDirect
Galactosemia is a hereditary disturbance of the carbohydrate metabolism in which the body is unable to metabolize galactose (lac tose).
Galactosemia Cataract: Report of a Case - ScienceDirect
Galactosemia, in the human, is an extremely rare congenital anomaly of carbo hydrate metabolism. The essential features of this clinical entity are: hepatomegaly, splenomegaly, galactosuria, albuminuria, diarrhea, vomit ing, failure to …