Liver Metabolic Disorders

A number of rare liver metabolic disorders are caused by a mutation in a single gene that either damages the liver directly or effects a vital function that impairs other organs. Without adequate treatments, complete or partial liver transplantation is often the only treatment option for severe liver metabolic disorders. Conditions associated with liver damage include Wilson’s Disease and alpha-1 Antitrypsin Deficiency, and here full liver transplantation replaces the dysfunctional liver, corrects the genetic defect, and effectively cures the disease. Whereas other liver diseases do not present with liver damage, including Urea Cycle Disorders, Crigler-Najjar Syndrome, and Primary Hyperoxaluria Type 1. Here only partial liver transplantation may be required to provide the mutated or missing protein.

The Orphan Disease Center focuses on developing patient registries for this group of diseases, with our International Crigler Najjar Patient Registry being a first of its kind for this disease. The center also supports research into gene therapies and genome editing as a treatment platform for this group of diseases.

Monogenic diseases of the liver can be separated into those that do and do not cause significant damage to the liver parenchyma. Conditions associated with liver damage include Wilson’s disease and a1 antitrypsin deficiency, and here liver transplantation replaces the dysfunctional liver, corrects the genetic defect, and effectively cures the disease. Whereas other liver diseases do not present with liver damage, including urea cycle disorders, Crigler-Najjar syndrome, and primary hyperoxaluria type 1. Here only partial liver transplantation may be required to provide the mutated or missing protein.

Liver metabolic disorders are diseases that affect metabolism and the mutant protein is primarily expressed in the liver. Monogenic diseases or diseases caused by a single gene mutation can be cured by liver transplantation. Liver transplantation replaces the injured liver or supplies tissue to replace the mutated or missing protein.

One of the ODC's research areas is the liver metabolic disorder known as Homozygous Familial Hypercholesterolemia (HoFH).  To learn more about HoFH and the potential for gene therapy, click here.