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Symptoms of metabolic disease

Metabolic syndrome, the most common form of metabolic disease, usually causes no symptoms at all. Most people find out they have it after a routine blood test or health check-up.

Other metabolic disorders can cause a wide range of symptoms, depending on which part of your metabolism is affected. These can include:

  • tiredness or weakness
  • muscle weakness
  • unexpected weight gain or loss
  • changes in skin colour, including yellowing (jaundice)
  • stomach pain
  • nausea or vomiting
  • a reduced appetite
  • developmental problems in babies and infants.

Causes of metabolic disease and who is at risk

Metabolic conditions fall into two broad groups, based on what causes them.

Inherited metabolic disorders are caused by a faulty gene passed down from one or both parents, which affects an enzyme needed for a specific metabolic process. These conditions are rare and are usually present from birth.

Acquired metabolic conditions are far more common and develop later in life. They're linked to factors such as:

  • an unhealthy diet, particularly one high in saturated fat, processed food or added sugar
  • low levels of physical activity
  • carrying excess weight, particularly around your tummy
  • insulin resistance, where your body doesn't respond properly to the hormone insulin
  • an organ, such as your pancreas or liver, not working as it should
  • smoking and drinking excessive amounts of alcohol.

Your risk of metabolic syndrome specifically increases with age and is higher if you're of Hispanic or South Asian background.

Are there different types of metabolic disease?

There are hundreds of recognised metabolic disorders. Examples of rarer, inherited types include:

  • phenylketonuria (PKU), where the body can't properly break down certain amino acids, which can cause brain damage if untreated
  • Gaucher's disease, where fatty substances build up in the liver and spleen
  • mitochondrial disorders, which affect how efficiently your cells can produce energy.

More common, acquired conditions include:

  • type 2 diabetes, where the body can't use the hormone insulin properly, leading to high blood sugar
  • metabolic syndrome, a cluster of risk factors, including high blood pressure, high blood sugar, and unhealthy cholesterol levels, that together raise your risk of heart disease and diabetes
  • haemochromatosis, where the body absorbs and stores too much iron.

How metabolic disease is diagnosed

A doctor will ask about your symptoms and medical history, including any similar conditions in your family, which can point to a genetic cause.

If metabolic syndrome is suspected, your GP or a specialist will usually check your body mass index (BMI) and waist measurement, take your blood pressure, and arrange blood tests to measure your blood glucose and cholesterol levels. You may be asked not to eat or drink anything except water for up to 12 hours beforehand. For other metabolic disorders, the specific tests used will depend on which condition is suspected, but a blood test is usually part of the process.

How metabolic disease is treated

Treatment depends on the type of metabolic disease you have. Many metabolic disorders are genetic and currently have no cure, so treatment focuses on managing symptoms, often with lifelong medication, dietary changes, or both.

For metabolic syndrome, treatment is mainly based on lifestyle changes, such as:

  • losing weight if you're overweight
  • eating less saturated fat, meat and dairy, and more fruit, vegetables and wholegrains
  • doing at least 150 minutes of moderate to intense exercise a week, spread across 4 or 5 days
  • cutting down or quitting smoking
  • avoiding sitting for long periods.

You may also be offered medication to help you lose weight, improve insulin resistance and blood glucose levels, improve your cholesterol, or lower your blood pressure.

When to see a doctor

See a GP if you think you may be at risk of metabolic syndrome, for example if you're carrying excess weight, especially around your middle.

You should also see a doctor if you notice:

  • unintentional weight loss or gain
  • feeling unusually hungry or thirsty, despite eating and drinking normally
  • needing to urinate much more often than usual
  • ongoing tiredness or weakness
  • regular vomiting
  • yellowing of your skin or eyes.

FAQs

  • What's the difference between metabolic syndrome and an inherited metabolic disorder?

    Metabolic syndrome is a common, acquired condition linked to lifestyle factors such as diet, weight and activity levels. Inherited metabolic disorders are rare genetic conditions, usually present from birth, caused by a faulty gene affecting a specific metabolic process.

  • Can metabolic disorders be cured?

    It depends on the condition. Many inherited metabolic disorders currently have no cure and need lifelong management with medication, diet, or both. Metabolic syndrome, on the other hand, can often be significantly improved, or even reversed, through sustained lifestyle changes.

  • Are inherited metabolic disorders common?

    No, they're generally rare. There are hundreds of recognised inherited metabolic disorders, but most affect only a small number of people. Acquired metabolic conditions, such as metabolic syndrome and type 2 diabetes, are far more common.

  • Can metabolic syndrome be treated with lifestyle changes alone?

    For many people, yes. Losing weight, eating a healthier diet, exercising regularly and stopping smoking can significantly improve or resolve metabolic syndrome. Some people also need medication to manage blood pressure, cholesterol or blood sugar alongside these changes.

  • What health problems can metabolic syndrome lead to?

    Metabolic syndrome increases your risk of cardiovascular disease and type 2 diabetes. It can also increase your chances of developing non-alcoholic fatty liver disease, osteoarthritis, gout and some cancers, and can sometimes affect fertility.