Metabolic Disorder

Metabolic disorders happen when the body’s normal chemical processes don’t work properly, affecting how we break down food for energy or how our cells function. These conditions can range from inherited genetic problems to diseases that develop when organs like the liver or pancreas stop working correctly.

Table of contents

• What is a Metabolic Disorder?
• Different Types of Metabolic Disorders
• Understanding Metabolic Syndrome
• What Causes Metabolic Disorders?
• Common Symptoms
• How Doctors Diagnose Metabolic Disorders
• Treatment and Management
• Prevention and Healthy Living

What is a Metabolic Disorder?

Metabolism is the process your body uses to get or make energy from the food you eat. Food contains proteins, carbohydrates, and fats. Your digestive system breaks these food parts down into sugars and acids, which become your body’s fuel. Your body can use this fuel right away, or it can store the energy in your liver, muscles, and body fat.^[2]

A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy.^[2] These disorders can negatively alter how your body processes and distributes important nutrients like proteins, fats, and carbohydrates.^[5]

Inborn error of metabolism

Different Types of Metabolic Disorders

There are different groups of metabolic disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids (fats). Another group, called mitochondrial diseases, affects the parts of cells that produce energy. Mitochondria are small parts of cells that primarily produce energy. Problems with mitochondria can affect how much energy cells can produce.^[2][4]

You can develop a metabolic disorder when organs such as your liver or pancreas become diseased or do not function normally. Diabetes is one example of this type of metabolic disorder.^[2]

Many metabolic disorders are inherited, meaning they are passed down through families. These are called inborn errors of metabolism and occur when a defective gene causes an enzyme deficiency. These diseases have many subtypes and are caused by inherited single gene problems, most of which are passed down in families.^[4][5]

Understanding Metabolic Syndrome

Metabolic syndrome is a specific group of conditions that together increase your risk of cardiovascular disease, Type 2 diabetes, and stroke. It can lead to other health problems as well, including conditions related to plaque buildup in artery walls (a condition called atherosclerosis) and organ damage.^[1][3]

A person meets the criteria for metabolic syndrome if they have at least three of the following five conditions:^[1][6]

• Excess abdominal weight: A waist circumference of more than 40 inches in males and 35 inches in females
• High triglycerides: Triglyceride levels that are 150 milligrams per deciliter of blood (mg/dL) or greater. Triglycerides are a type of fat found in your blood
• Low HDL cholesterol: HDL cholesterol (sometimes called “good” cholesterol) of less than 40 mg/dL in males or less than 50 mg/dL in females
• High blood pressure: Blood pressure values of 130 mmHg or higher (the top number) and/or 85 mmHg or higher (the bottom number)
• Elevated blood sugar levels: Fasting blood sugar level of 100 mg/dL or greater. If it’s 100 to 125 mg/dL, you have prediabetes. If it’s over 125 mg/dL, you likely have Type 2 diabetes

All of these conditions individually increase your risk of cardiovascular disease, Type 2 diabetes, and stroke. But when you have three or more, your risk increases significantly.^[1] Metabolic syndrome is common in the United States, affecting about 1 out of every 3 adults.^[1][6]

Other names for metabolic syndrome include Syndrome X, insulin resistance syndrome, and dysmetabolic syndrome.^[1]

What Causes Metabolic Disorders?

Metabolism is a complex process that involves many biochemicals, tissues, and organs. This means there are many opportunities for something to go wrong and cause a metabolic disorder.^[4]

Some examples of causes include:^[4]

• Genetics: Genes can influence metabolic processes in a variety of ways. For example, people with Gaucher’s disease have a genetic mutation that limits the production of an enzyme needed for breaking down fats. This can cause a harmful buildup of fat around the body
• Organ dysfunction: Organs involved in metabolism can fail to function properly. For example, diabetes can occur when the pancreas is unable to produce sufficient insulin to regulate blood glucose levels
• Mitochondrial dysfunction: Mutations of the mitochondria or cell DNA, or environmental triggers, can affect how well mitochondria function and how much energy they can produce

For metabolic syndrome specifically, researchers think insulin resistance is the main driver. Insulin resistance happens when cells in your muscles, fat, and liver don’t respond as they should to insulin, a hormone your pancreas makes that’s essential for life and regulating blood glucose (sugar) levels.^[1]

When your cells respond inappropriately to insulin, they can’t efficiently take up glucose from your blood or store it. As a result, your pancreas makes more insulin to try to overcome your increasing blood glucose levels. This is called hyperinsulinemia. If your body can’t produce enough insulin to effectively manage your blood sugar, it leads to high blood sugar and prediabetes or Type 2 diabetes.^[1]

The following can all contribute to insulin resistance: excess weight around your abdomen or having obesity, as body fat releases chemicals that dampen the effect of insulin.^[1]

Common Symptoms

Some of the symptoms that can occur with metabolic disorders include lethargy, weight loss, jaundice, and seizures. The symptoms expressed would vary with the type of metabolic disorder.^[5]

For metabolic syndrome specifically, not all aspects cause symptoms. Your symptoms will vary based on which of the five conditions you have. For example, high blood pressure, high triglycerides, and low HDL cholesterol usually don’t cause symptoms.^[1][3]

High blood sugar (hyperglycemia) can cause symptoms for some people, including:^[1]

• Darkened skin in your armpits or the back and sides of your neck (a condition called acanthosis nigricans)
• Blurred vision
• Increased thirst
• Increased urination, especially at night
• Fatigue

A large waist size can point to metabolic syndrome. People with metabolic syndrome typically have apple-shaped bodies, meaning they have larger waists and carry a lot of weight around their abdomens.^[3]

How Doctors Diagnose Metabolic Disorders

Metabolic disorder screening can be done in newborns through blood, skin, or hearing tests.^[5] Specific blood and DNA tests can be done to diagnose genetic metabolic disorders.^[5]

For metabolic syndrome, diagnosis is based on medical history, family medical history, a physical exam, and blood pressure and blood tests.^[7] The diagnosis of metabolic syndrome is made when a person has at least three of the five key conditions: large waist size, high triglycerides, low HDL cholesterol, high blood pressure, and high fasting blood sugar.^[7]

Treatment and Management

The main goals of treating metabolic syndrome are to lower your risk of heart disease and to prevent type 2 diabetes if it hasn’t already developed. If you already have type 2 diabetes, treatment can lower your risk of heart disease by controlling all your risk factors.^[9]

Heart-healthy lifestyle changes are the first line of treatment for metabolic syndrome. You may have to see a dietitian and a physical therapist to help find a diet and exercise plan that works for you. If healthy lifestyle changes do not work, you may need medicines or weight loss surgery.^[9]

Lifestyle changes that involve diet and exercise often are the first treatment for metabolic syndrome. If lifestyle changes aren’t enough, medicines may help you manage blood pressure, cholesterol, and blood sugar levels.^[7]

Metabolic disorders can be treatable by nutrition management, especially if detected early. It is important for healthcare providers to have knowledge of the specific condition to create a treatment that will be more effective for the individual.^[5]

Several types of medications help control blood pressure, blood glucose, or blood cholesterol. For example, medicines called ACE inhibitors lower blood pressure, and they have also been shown to reduce insulin resistance. Metformin is used to help prevent diabetes in people with metabolic syndrome. Aspirin may be recommended to prevent the blood from becoming sticky and forming clots.^[10]

Prevention and Healthy Living

The good news is that metabolic syndrome is largely preventable. Knowing the risk factors and making healthy lifestyle changes can help you lower your chances of developing metabolic syndrome or the health problems it can cause.^[6]

To reduce your chances of getting metabolic syndrome, take these steps:^[12]

• Quit smoking
• Maintain a healthy weight by eating fruits, vegetables, and whole grains
• Exercise about 30 minutes at least four days per week
• Drink alcohol in moderation

For people with metabolic syndrome or any of the conditions that are part of it, making healthy lifestyle changes can help prevent or delay serious health conditions. Health experts recommend getting at least 30 minutes of exercise, such as brisk walking, daily. Look for ways to increase activity any chance you get, such as walking instead of driving and using the stairs instead of an elevator.^[7]

Losing 3% to 5% of body weight can reduce insulin resistance and lower the risk of some diseases. A heart-healthy eating plan includes fruits, vegetables, and whole grains and limits saturated fats, sodium (salt), added sugars, and alcohol.^[7][9]

Learning how to manage stress, relax, and cope with problems can improve both emotional and physical health.^[9]