Tuberous sclerosis, otherwise referred to as Bourneville's disease or tuberous sclerosis complex, is an inherited disease that affects multiple systems. It is an uncommon condition, which leads to the formation of many tumors in various locations of the body, which are non-malignant.
Tuberin and hamartin, the two…
α-Methylacyl-CoA racemase (AMACR) deficiency is an inherited condition that leads to functional impairment of the cellular peroxisomes and elevated levels of pristanic acid, phytanic acid, and C27-bile acid intermediates.
AMACR deficiency manifests with a varying clinical picture. A more definitive establishment of a…
Progressive familial intrahepatic cholestasis (PFIC) is a group of inherited cholestatic conditions that develop as a result of impaired bile secretion. It manifests in infancy or childhood and can progress to failure to thrive or even advanced liver disease. Severe cases often require liver transplantation.
Hepatolenticular degeneration, more commonly known as Wilson's disease, is a genetic disorder characterized by the accumulation of copper due to mutations of ceruloplasmin, which is involved in its transport and excretion. Hepatic, neurologic and psychiatric symptoms may be encountered. The diagnosis is made by…
In many cases, signs and symptoms of AAT deficiency do not show up before the individual is above the age of 30 years. However, some individuals who smoke tend to develop symptoms in their early 20s. AAT deficiency gravely affects the functioning of the lungs and the liver. The signs and symptoms include the…
Primary biliary cirrhosis (PBC) is a chronic and progressive disease of the liver which involves destruction of the interlobular bile ducts.
In many cases, primary biliary cirrhosis causes no symptoms. However, in certain percentage of individuals this disease is known to cause the following signs and symptoms: Dry…
Hepatitis B is a form of viral hepatitis, caused by the hepatitis B virus, a member of the Hepadnavirus family. It is estimated that worldwide, more than 350 million people have chronic hepatitis B virus infection. The course of the disease may be extremely variable, depending on the patient’s age and immune status.…
Hepatitis C is an infectious disease caused by the hepatitis C virus. If such an infection persists for more than six months, it is deemed chronic hepatitis C, and this condition bears high risks of liver cirrhosis or malignant degeneration.
An acute stage of hepatitis C infection has been described, but most patients…
Mild cases of alcoholic hepatitis usually are asymptomatic. As the disease progresses, the damage to the liver increases and the following signs and symptoms are evident: Weight loss Appetite changes Nausea accompanied by vomiting Inflammation along with pain Undue fatigue Jaundice Fever Confusion Excessive feeling…
Alcoholic liver disease denotes a spectrum of pathological changes in the liver as a result of severe alcohol abuse. Lipid accumulation, fibrosis and cirrhosis may ensue and may lead to end-stage liver disease. Milder forms can have an asymptomatic course while advanced disease presents with undernourishment, severe…