What Are the Symptoms of Metabolic Liver Disease?

Joel E Lavine MD

Joel Lavine

When it comes to metabolic liver disease, there are several symptoms you can look for. While it may be impossible to know the exact cause of a particular symptom, some factors can help your doctor determine whether or not it is related to your metabolic disease.

Genetic/metabolic diseases of the liver

There are many metabolic and genetic diseases of the liver. Abnormalities cause these diseases in a specific gene. This can lead to a wide variety of symptoms. The symptoms vary depending on the specific disease. If you suspect that you or someone you know has a disorder, it is important to seek medical help.

Genetic/metabolic diseases of the liver can be serious. They can affect the health of the entire body. In addition to causing liver damage, they can also affect the pancreas, heart and joints.

Non-alcohol-related fatty liver disease

Non-alcoholic fatty liver disease, or NAFLD, is a condition in which fat accumulates in the liver. Most people don’t have disease symptoms, but it can cause serious health problems. Symptoms include fluid retention, fatigue, weight loss, and weakness. If you experience any of these symptoms, see your doctor. The disease can be treated with lifestyle changes and medications.

Some risk factors for fatty liver disease include obesity, diabetes mellitus, dyslipidemia, and metabolic syndrome. Doctors may use tests such as a liver biopsy to determine if you have the disease. It would help if you also avoided heavy alcohol consumption.

Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency (AATD) is a genetic disease that causes liver and lung damage. People with AATD often have symptoms such as emphysema, hepatic encephalopathy, and vasculitis. AATD can be caused by a single gene or a combination of two abnormal genes.

People with two abnormal AAT genes are at high risk of developing organ damage. AATD is also associated with anticytoplasmic antibody-positive vasculitides.

Despite the relatively low incidence of AATD, the severity of the condition varies. Individuals with two abnormal AAT genes are at high risk for severe organ damage, usually accompanied by respiratory failure. Fortunately, many patients with AATD can live a normal life span.

Glycogen Storage Deficiencies (GSD)

Glycogen storage disease is when the body stores excess glucose in the liver and muscles. It occurs when a person has a genetic defect that interferes with how glycogen is broken down. The presence of excess glucose causes problems in these organs, which can lead to serious complications.

People with this disease are missing an enzyme that breaks down glycogen into glucose. This makes it difficult for the body to use it as fuel. Because of this, the patient’s blood sugar levels can fall below normal.


If your baby’s mother has galactosemia, he is at risk for developing the disorder. In some cases, the child may develop brain damage or learning disabilities. It is important to diagnose the disorder early so the child can receive treatment.

Newborn screening is the first step to detecting the condition. This test involves pricking the heel of your baby’s foot and drawing a blood sample. Depending on the blood test results, the baby may be diagnosed with the disease. The next step is genetic testing.

Acanthosis nigricans

Acanthosis nigricans is a skin condition characterized by forming thick, velvety skin in body folds. Typically, this is the case in the armpits, groin, or neck. The skin can be dark or light, depending on the underlying pigmentation. It can also be a sign of cancer, particularly in the liver, gastrointestinal tract, or colon.

Acanthosis nigricans has many causes, but the most common is obesity. Obesity is associated with insulin resistance, which makes it more difficult for the body to absorb glucose. Eventually, this can lead to fatty liver or cirrhosis, which is dangerous.

Approach to a child with Acute liver failure and suspected metabolic liver disease

If your child is undergoing treatment for acute liver failure, chances are that you’ve already been given a diagnosis or two. While the underlying cause is usually viral or bacterial, metabolic conditions are also known to present in this manner. It is important to make the right diagnosis as pediatric patients are not uncommon to die of this condition. Fortunately, a few tests are available to help rule out these lesser-known culprits.

The best way to approach a child with acute liver failure is to keep in mind that the symptoms may be a symptom of a more complex problem. In addition, a high index of suspicion is required for a correct diagnosis. A few basic lab tests should be performed. These include the blood and urine tests mentioned above. A liver biopsy should also be considered as a diagnostic tool.

Tests are performed routinely on patients with metabolic liver disease.

Several tests can be performed routinely on patients with metabolic liver disease. These include aldolase B activity on intestinal biopsy, fumarylacetoacetate hydrolase activity on liver tissue and enzymatic activities. However, these tests are not always diagnostic of liver injury.

In the United States, more people are undergoing liver blood testing. This is because liver diseases are often difficult to diagnose. The blood test results may show transient changes or may indicate hepatocellular damage.