Liver disease may present with raised serum liver enzymes (alanine aminotransferase, aspartate aminotransferase and gamma-glutamyl transpeptidase) at least twice the normal values, early onset hepato(spleno)megaly or more severe manifestations including portal hypertension, esophageal varices and liver cirrhosis [47,55]. The gene discussed is GGTLC1; the disease is liver disorder.