Lucey-Driscol syndrome is an inherited metabolic
disorder that leads to hyperbilirubinemia
present in an infant at the time of birth
The syndrome is thought to be caused by a recessive allele
that codes for the production of enzymes to metabolize bilirubin
. Bilirubin accumulates and in high concentration is toxic to brain tissue, and can cause death.
Thankfully the characteristics of this are normally transient, and if the infant can survive beyond the first period of life after birth prospects are good. Phototherapy can be used to treat the buildup of bilirbin, preventing the effects of its toxicity.