Genetic/Metabolic Diseases of the Liver

Also known as: inherited metabolic disease of the liver.

What are genetic/metabolic diseases of the liver?

Certain disorders that children are born with can make it difficult for the liver to process certain nutrients, such as fats, proteins or carbohydrates. This group of disorders is known as genetic/metabolic diseases of the liver. Some of the names of these disorders include but are not limited to Wilson’s disease, Alpha-1 Antitrypsin deficiency, GALD (Gestational Alloimmune Liver Disease), fatty acid oxidation defects, glycogen storage deficiencies, galactosemia, lipid storage diseases, tyrosinemia, urea cycle disorders, and peroxisomal disorders.

What causes genetic/metabolic diseases of the liver?

As the name suggests, these disorders are due to a genetic mutation that a child is born with.

What are the symptoms of genetic/metabolic diseases of the liver?

Symptoms can vary depending on the nature of the condition. Symptoms can affect the liver and include nausea, vomiting, fatigue, weight loss, pain, bloating, jaundice, other symptoms, and at times liver failure. Symptoms can also impact other parts of the body depending on the nature of the disorder.

What are genetic/metabolic diseases of the liver care options?

The common treatments for genetic/metabolic diseases of the liver can include dietary changes, medications, and, in extreme cases, a liver transplant.


Reviewed by: John M. Peters, DO

This page was last updated on: 2/5/2018 3:55:27 PM

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Dr. Peters is employed by Pediatric Specialists of America (PSA), the physician-led group practice of Miami Children’s Health System. He sees patients at the Nicklaus Children's Palm Beach Gardens Outpatient Center and is the PSA Northern Regional Chief, Section of Gastroenterology.