Inherited Metabolic Disorder

What is an Inherited Metabolic Disorder?

Inherited metabolic disorders are conditions or disorders that are passed down genetically from one or both parents. These disorders affect the person’s metabolism, the way that their body processes food, water, and other nutrients. Oftentimes, this is due to defective genes. Most cases of inherited metabolic disorders occur due to genetic defects that are inherited from both parents.

There are many different types of inherited metabolic disorders, but most are due to an enzyme deficiency that causes problems with metabolism. Metabolism works by a series of chemical reactions that break down the substances that enter your body into energy that can be used immediately or stored for future use when needed. When this process breaks down, it can have numerous effects including a lack or deficiency in certain nutrients or buildups of substances in the body that could be extremely dangerous.

Some of the types of inherited metabolic disorders affect lysosomal storage. Lysosomes break down waste in the body and as such, a malfunction can lead to a dangerous buildup of toxins in the blood. Other disorders affect different factors of metabolism like the breakdown of sugars, activities of the mitochondria, and a myriad of other metabolic processes.

What are the Symptoms of an Inherited Metabolic Disorder?

Some inherited metabolic disorders can be diagnosed with blood tests at birth and thus do not need to present symptoms to be detected. However, there are notable symptoms that many inherited metabolic disorders cause.

Symptoms include

Vomiting, lethargy or easy fatigue, growth issues of failure to thrive (i.e. not gaining weight subsequent with age), abdominal pain, and a lack of appetite. Serious symptoms can also occur like jaundice, seizures, coma, and even death.

Inherited Metabolic Disorder Causes

The most common cause is genetic transmission called autosomal recessive inheritance. Translation, altered gene cells can miss an enzyme, upsetting over 100 metabolic functions, disrupting the natural metabolic processes. The inherited gene builds up toxic chemicals, prohibiting the body from generating a basic substance to avoid a harmful metabolic reaction.

Family stories have a sequence linked to this disorder. Sometimes only, a single parent carries the gene with no sign of inherited traits. In these instances, the parent’s body produces enough enzymes to prevent the metabolic dysfunctions. The risks increase when both parents are carriers. Each parent transmits one normal gene and one mutated gene, passing two defective genes and two normal genes pass on to offspring.

Ingesting high quantities of specific foods like carbohydrates, fat and protein raises the risk of inducing metabolic disorders and organ diseases. The most prevalent metabolic disorder related to food consumption is diabetes.

How is an Inherited Metabolic Disorder Treated?

The purpose of treatment for inherited metabolic disorders is to try to find a way to get around the genetic defect.

Treatments include

Sometimes, a highly specialized diet to eliminate certain foods and nutrients can be effective. Medications to replace missing or ineffective enzymes may also be possible depending on the specific metabolic condition. Treating the blood to remove toxins is also a potential treatment for inherited metabolic disorders.

Inherited Metabolic Disorder Prevention

You may not prevent inheriting the mutated gene, but you can prevent a metabolic disorder by learning more about your family genetics and its effect on your health. Talk with your doctor and understand how your family medical history you can help identify, which disorder is most common.

If you are planning to have children, some inherited metabolic disorders are recognized at birth, so prevention remedies can begin at once. Long-term prevention includes eating a healthy diet lessening the risks of metabolic disorders and other common illnesses.

Families share factors from lifestyle choices and environments – all contributing valuable information to avoiding the disorder. Collect family medical records; keep the information and your doctor up-to-date with regular visits. Routine genetic testing can help ease any stress and document the effects of life changes or medications prescribed for the condition.

Last Reviewed:
September 21, 2016
Last Updated:
March 30, 2018