Von reuss syndrome (galactosemic syndrome; galactokinase deficiency; galactosemia) 1

General: Autosomal recessive; consanguinity; conversion of galactose into glucose is bl 959j95j ocked, leading to galactosemia; onset after a few days or weeks of milk ingestion; deficiency of galactose-l-phosphate uridyltransferase.

Ocular: Searching-type nystagmus; bilateral nuclear or cortical cataracts appear clinically as oil droplets; bilateral zonular cataracts with fine punctate opacities in the lens periphery.

Clinical: Vomiting; refusal of food; diarrhea; weight loss; hepatomegaly with ascites; jaundice; galactosuria; aminoaciduria; dehydration; hypoglycemic crisis; failure to thrive; hypotonia; lethargy; severe mental and neurologic manifestations.

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Lerman S. The lens in congenital galactosemia. Arch Ophthalmol 1960; 61:88.

Okajima K, et al. Thimidase kinase in individuals with galactokinase deficiency [Letter]. Am J Hum Genet 1987; 41: 503-504.