Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Classical galactosemia due to a deficiency of galactose-1-phosphate-uridyl transferase, is an autosomal recessive disorder of galactose metabolism with an incidence in Ireland of one in 30,000 births. It can result in cataract formation through the accumulation of galactitol within the lens. Seventeen children with transferase deficient galactosemia were studied. Early diagnosis followed by a galactose-free diet and tight biochemical control prevented cataract formation in 13 cases after a mean follow-up of 6.3 years. Cataracts did not regress in all patients commenced on diet by 6 weeks but early treatment prevented progression. The ophthalmologist may play an important role in the monitoring of patients with this disease as the recognition of new lens opacities by slit-lamp biomicroscopy may be the most sensitive initial index of inadequate biochemical control.
J Pediatr Ophthalmol Strabismus
PMID:Ophthalmic findings in classical galactosemia--a screened population. 276 Jul 88