Medically reviewed on August 1, 2022 by Jillian Foglesong Stabile, MD, FAAFP. To give you technically accurate, evidence-based information, content published on the Everlywell blog is reviewed by credentialed professionals with expertise in medical and bioscience fields.
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Your body is like a well-oiled machine. Under the surface, there are thousands of processes taking place, keeping you in tip-top shape. One of the most crucial pieces of the puzzle is your metabolism.
So, what is metabolism? Your metabolism plays a role in numerous bodily functions, from keeping your blood circulating to digesting your food. However, not everyone has a metabolism that always functions at full capacity.
For some people, regular metabolic function is impacted by a metabolic disorder—an issue that arises when abnormal chemical reactions disrupt the metabolic process. To help you understand these relatively rare disorders, we’ll be examining metabolic disorders in more depth, including the causes, signs, and treatment options for several conditions.
A metabolic disorder is any condition that disrupts the normal function of your metabolism.
When functioning properly, your metabolism turns the calories you consume into energy by combining them with oxygen and dispersing them throughout your body. Using various hormones and enzymes, your metabolism breaks down the foods you eat, turning nutrients into fuel or storing it for later.
Through proper nutrition, metabolic processes can also help your body maintain body temperature, grow, and heal wounds.
Typically, metabolic disorders occur when you have too much or too little of the chemical substances involved in healthy metabolic function. These disorders impact your metabolism by interfering with one or more of the following “ingredients” of the metabolic process:
Other metabolic disorders, known as mitochondrial diseases, affect the parts of your cells that produce energy.
The metabolic process is complex, and there are various steps along the way where something can go wrong. As such, metabolic disorders occur in a few different ways, including: 
Regardless of where they come from, metabolic disorders can affect quality of life. Catching them as early as possible is ideal—and the best way to do that is to learn the signs and symptoms of common disorders.
There are hundreds of metabolic disorders in existence, ranging from somewhat common to exceedingly rare.  Here are seven examples of metabolic disorders you should know about, along with their causes, symptoms, and treatment options.
Diabetes is one of the most prevalent metabolic disorders, affecting around 1 in 10 Americans.  Although diabetes is classified as an autoimmune disease, it is in fact a metabolic disorder, as insulin—the hormone affected by diabetes—is involved in the metabolic process.
There are two varieties of diabetes:
Symptoms of diabetes include: 
Luckily, both types of diabetes are treatable. For type 1 diabetes, treatment involves insulin injections or an insulin pump. For type 2, recommended lifestyle changes include healthy eating, an exercise regimen, and, sometimes, taking medications.
Gaucher disease (pronounced go-SHEY) is a rare disorder that shows up in roughly one of every 40,000 births.  It is a lysosomal storage disorder that causes fatty substances to build up in the spleen, liver, and other organs. When overloaded with fats, these enlarged organs may cause pain and struggle to function.
As a hereditary disorder, Gaucher disease is only passed to children if both parents carry the gene that causes it.
Symptoms of Gaucher disease include: 
Most types of Gaucher disease are treatable. Typical treatment involves enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).  ERT is performed via IV, while SRT is administered orally.
Hunter syndrome is a very rare genetic metabolic disorder that is much more prevalent in males.  The metabolic syndrome occurs when an important enzyme is either missing or not functioning properly.
Symptoms of Hunter syndrome tend to show up between the ages of 2 to 4 and include: 
These symptoms can lead to respiratory and cardiac complications. While there is no cure for Hunter syndrome, there are ways to manage the complications that arise. For example, sleep apnea is a common symptom, so devices that keep the airway open during sleep are often prescribed.
Another inherited disorder, maple syrup urine disease (so-called because of the sweet odor of urine produced by affected individuals) is caused by inefficiencies in processing amino acids. MSUD affects approximately 1 in 185,000 infants around the world. 
Other symptoms of the disease include:
Because people with MSUD struggle to break down the amino acids valine, leucine, and isoleucine, the most common treatment is a lifelong diet plan that limits the consumption of these amino acids.  When left untreated, MSUD can result in a coma or, in rare cases, death.
PKU is an inherited metabolic disorder that leads to a build-up of phenylalanine (an amino acid).
Although PKU is rare, it can cause severe problems.  Typical symptoms include:
As with MSUD, treatment revolves around limiting foods containing the problematic amino acid, such as aspartame- and protein-rich options.
Like MSUD, Tay-Sachs disease is a genetic metabolic disorder caused by an inability to break down a substance involved in metabolizing. However, in the case of Tay-Sachs, patients that are affected are missing an enzyme that helps process fatty substances. 
The most common form of Tay-Sachs disease is infantile; signs of the disease begin to show at three to six months.  Typical symptoms include:
In rare cases, juvenile or late-onset Tay-Sachs disease can occur in children aged five and up.  Symptoms differ from the infantile form and include:
Unfortunately, Tay-Sachs disease is often fatal, as it can progressively worsen. However, genetic screening tests can identify the genes associated with the disease. If you have a family history of the disease, you can undergo genetic screening and counseling before conceiving.
Wilson’s disease is an inherited metabolic disorder that leads to a build-up of copper in the brain, liver, and other organs.  As a genetic disorder, it’s passed from parent to child at birth.
Although most people don’t think of copper as something to consume, the body requires a certain amount of the mineral to develop nerves, bones, melanin, and collagen. Under normal circumstances, your body absorbs the necessary amount of copper from your diet, then sends the leftovers to your liver for disposal.
However, if you suffer from Wilson’s disease, your body will continue to absorb copper—and it’s possible to have too much of a good thing.
There are a few telltale signs of Wilson’s disease, such as: 
While excessive copper can be life-threatening, Wilson’s disease is treatable—especially when caught early. Treatment involves taking medications throughout one’s life and continuing to monitor symptoms. 
One way to check your metabolic health is to take an at-home Metabolism Test from Everlywell. Our test measures three hormones—cortisol, free testosterone, and thyroid-stimulating hormone (TSH)—that are vital to a healthy metabolism.
While a single test won’t be able to confirm whether or not you have a metabolic disorder, it can help you determine what your next steps should be.
Remember: Only a healthcare provider can give you an official diagnosis. Until then, you shouldn’t take a hormone imbalance as proof that you have a metabolic disorder—but it may mean you should follow up with additional testing.
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