Metabolic Liver Diseases

Metabolic liver diseases refer to a heterogenous group of diseases that are due to genetic abnormalities that usually affect a single gene and result in inability of liver to synthesize a particular gene product. The gene product is usually a protein which performs a unique, vital function either in the liver itself or in other organs. The liver itself may or may not be affected by the disease. Typical examples of metabolic liver disease are Criggler-Najjar syndrome, primary hyperoxaluria, urea cycle disorders, tyrosinemia, haemochromatosis and Wilson’s disease. Some of them like Wilson’s disease, tyrosinemia and haemochromatosis affect the liver and present as liver failure. The liver itself is normal in few other metabolic diseases like Criggler-Najjar syndrome and urea cycle disorders. In the latter diseases, the problem is caused by lack of the protein product of the genetic defect which affects some body function or another organ, other than the liver itself.