What Are Metabolic Disorders?
What Are Metabolic Disorders?Metabolic disorders occur when abnormal chemical reactions disrupt the body's metabolism. As a result, the body may make too much or too little of the essential substances needed to stay healthy. Hundreds of metabolic disorders can affect just about any part of the body.
Inherited metabolic disorders may affect about one in 1,000 to 2,500 newborns.
Types of Metabolic Disorders
Types of Metabolic DisordersGenetic mutations cause hundreds of genetic metabolic disorders passed down from generation to generation. The most common metabolic disorders are:
- Type 2 diabetes: This illness affects about 30.3 million people in the United States. The disease occurs when blood glucose is too high. If not properly managed, long-term high blood glucose leads to other health problems such as nerve damage, eye problems, and kidney disease.
- Gaucher's disease: This disease prevents the body from breaking down certain fats, which then accumulate in the liver, spleen, and bone marrow. As a result, individuals with Gaucher's disease experience pain and bone damage. The condition can be fatal if not properly treated.
- Hemochromatosis: This disorder causes the body to absorb too much iron. Over time excess iron can damage tissues and organs and contribute to heart problems, arthritis, and liver damage.
- Phenylketonuria (PKU): Individuals with this medical condition can't produce the enzyme phenylalanine hydroxylase, which ultimately helps produce neurotransmitters. PKU leads to organ damage, mental retardation, and troubled posture if not treated.
- Mitochondrial disorders: These are genetic, long-term conditions that occur when mitochondria (parts of a cell that produce energy) don't produce enough energy for the body to function normally.
Metabolic syndrome refers to a cluster of metabolic abnormalities such as high blood pressure, obesity, and insulin resistance. Metabolic syndrome increases the risk of developing diabetes, stroke, and cardiovascular disease (CVD).
Signs & Symptoms of Metabolic Disorders
SymptomsMetabolic disorders are diverse; symptoms can vary and affect many aspects of the body's functions. Common symptoms of metabolic disorder include:
- Tiredness
- Muscle weakness
- Unexpected weight gain or loss
- Changes in skin color
- Stomach pain
- Nausea or vomiting
- Reduced appetite
- Developmental problems in babies and infants
Symptoms associated with metabolic disorders can be frustrating and disrupt many aspects of your life. Fortunately, specialists at NewYork-Presbyterian can help treat the symptoms.
What Causes Metabolic Disorders?
What Causes Metabolic Disorders?Most people with metabolic disorders have an enzyme deficiency or a missing enzyme. The missing or defective enzyme means that toxic chemicals may build up in the body or an essential product needed is not produced.
Common causes of metabolic disorders are:
- Genetics: Metabolic disorders are caused by genetic defects commonly inherited from both parents. Gaucher's disease and phenylketonuria (PKU) are examples of inherited metabolic disorders.
- Organ dysfunction: When someone experiences organ dysfunction, the organs involved in metabolism don't function properly. Organs involved in metabolism include the gut (large intestine), liver, adipose tissue, pancreas, kidney, and muscles. With diabetes, for example, the pancreas doesn't make enough insulin to balance blood glucose levels.
- Mitochondrial dysfunction: Mitochondria are the parts of a cell that produce energy for the body. Mutations of the mitochondria affect how well the mitochondria do their job of making energy.
Being overweight or obese plus a sedentary lifestyle increases the risk of developing metabolic syndrome. Metabolic syndrome can lead to a risk of developing cardiovascular disease and type 2 diabetes.
Risk Factors
Risk FactorsIt's important to be aware of the various risk factors associated with this condition. Individuals with a higher risk for inherited metabolic disorders are primarily those who have a family history of the condition.
Other risk factors include:
- Ethnicity
- Obesity
- Diabetes
- Age
Complications
ComplicationsMetabolic disorders negatively affect parts of the body that are directly involved in metabolism, such as the liver or kidneys, resulting in a range of complications. These complications usually arise because the body makes too much or not enough of a substance.
Some complications that occur due to metabolic disorders are:
- Diabetes: Type 2 diabetes occurs when the pancreas can't make enough insulin to balance blood sugar levels. Individuals with the condition can have a family history or develop gestational diabetes during pregnancy.
- Cardiovascular disease (CVD): This umbrella term refers to several conditions that affect the health of the heart and blood vessels. Conditions like high blood pressure, elevated triglyceride levels (bad cholesterol), and elevated blood sugar contribute to CVD.
- Obesity: Weighing 20 percent or more than your ideal body weight increases the risk of type 2 diabetes and cardiovascular disease, heart attack, stroke, and other diseases that will continue to compromise overall health.
Prevention
PreventionSymptoms can be well managed by following your doctor's advice and maintaining a healthy lifestyle to reduce your chances of developing other further health conditions.
In some cases, medication may provide added support to help manage symptoms. The following lifestyle adjustments may help as well:
- Adopting a healthy diet
- Getting regular exercise
- Maintaining a healthy weight
- Avoiding smoking
- Reducing stress
- Getting at least seven to eight hours of sleep each night
Trust NewYork-Presbyterian for Metabolic Disorder Care
If you're experiencing any symptoms of a metabolic disorder, don't hesitate to contact a health care provider immediately. Without treatment, signs of a metabolic condition will worsen, leading to major complications.