Byler disease

By·ler dis·ease

progressive intrahepatic cholestasis, with early onset of loose, foul-smelling stools, jaundice, hepatosplenomegaly, dwarfism, and occasionally death; due to an error in conjugated bile salt metabolism; autosomal recessive inheritance, caused by mutation in the familial intrahepatic cholestasis 1 gene (FIC1) on chromosome 18q.
[Byler, an Amish kindred]

Byler disease

An inherited disorder with a defect on chromosome 18 in which infants develop cholestatic jaundice and eventually cirrhosis. A high incidence of retinitis pigmentosa is associated with this disease, and mental retardation is frequently seen in affected children. Death from liver disease occurs by adolescence. Synonym: progressive familial intrahepatic cholestasis


Amish kindred in the U.S.
Byler disease - genetic trait in Amish children that causes fatal intrahepatic arrest of bile flow.
References in periodicals archive ?
Previous reports (15,16) have demonstrated the potential role of UDCA in the treatment of infants and children with cholestatic liver disease of various etiologies, including cystic fibrosis, inborn errors of bile-acid synthesis, Alagille syndrome, Byler disease, biliary atresia, and cholestasis associated with TPN.