Janvier [creativecommons license] via Wikimedia Commons
Galactosemia is an inherited metabolic disorder that occurs in roughly 1 of 60,000 babies. It is caused by enzymatic defects in the pathway that processes galactose, a sugar common in dairy products. Affected babies seem healthy at birth but quickly develop acute symptoms when exposed to milk and often die unless the condition is diagnosed. With early detection and strict avoidance of galactose, however, affected babies can survive the neonatal period. Unfortunately, many of them experience severe long-term complications, including organ damage or failure and neurological disabilities. The mechanisms underlying galactosemia are poorly understood; there is no cure, and appropriate treatment is poorly defined. This lack of understanding is partly attributed to the lack of an animal model that accurately mirrors the symptoms and development of galactosemia in humans.
Lab Anim. (NY) 39, 196 (2010).