Galactosemia and galactosuria characterize a hereditary disease caused by an inborn error of metabolism, which produces in an affected child the inability to metabolize galactose and lactose normally. Some appropriate terms that have been suggested and used synonymously are galactose diabetes, essential galactosuria, congenital galactosemia, congenital galactosuria, galactosis, and galactemia.1 The term used here, galactose disease, is favored by Kalckar and his associates2 who have recently done outstanding work on the fundamental etiology of the disorder.
Cases of this disease were first described in Germany by von Reuss3 in 1908 and by Göppert4 in 1917, and first in the United States by Mason and Turner5 in 1935. In 1946, Goldbloom and Brickman 1a counted only seven previously reported cases when reporting two more. Since then, reports have appeared with increasing frequency; it now seems obvious that the disease is much more common than is generally
Guest GM. HEREDITARY GALACTOSE DISEASE. JAMA. 1958;168(15):2015–2019. doi:10.1001/jama.1958.63000150010013