Metabolic Disorders

What are Metabolic Disorders?

Metabolic disorders occur when the normal metabolism process fails. Your metabolism turns your food into nutritional substances your body needs to stay healthy. Therefore, when you experience metabolic disorders, your body can develop a surplus of certain substances and a deficiency of others.

Types of Metabolic Disorders

Researchers have discovered hundreds of types of metabolic disorders. The most common metabolic disorder type is diabetes.

Common types of metabolic disorders:

  • Gaucher’s disease — a disruption of fat processing that results in a surplus of fat in the bone marrow, spleen, and liver. This is a serious condition that is potentially life threatening.
  • Organic acidemias — a metabolic failure that causes an accumulation of organic acids in urine.
  • Glucose galactose malabsorption — a failure of the body to carry glucose and galactose through the lining of the stomach.
  • Friedreich ataxia — a disruption to the processing of the protein, frataxin.
  • Mitochondrial disorders — complications with mitochondria, known as the “powerhouse of cells”. Untreated, these disorders can damage muscles.
  • Hereditary hemochromatosis — a condition where too much iron is left in organs such as the heart and liver.
  • Maple syrup urine disease (MSUD) — a metabolism disruption that causes a rapid breakdown of neurons. Untreated, this disease can be fatal.
  • Metal metabolism disorders — a disruption that leads to protein malfunctions and excess trace metals in the body.
  • Urea cycle disorders — a disruption in how the body removes waste.
  • Phenylketonuria (PKU) — a disruption that blocks the body from producing an enzyme called phenylalanine hydroxylase.
  • Peroxisomal disorders — malfunctioning enzymes result in an accumulation of toxic substances.
  • Lysosomal storage disorders — deficiencies in lysosome enzymes cause a buildup of toxic substances. These substances can lead to a range of problematic health conditions.


Metabolic disorder symptoms differ based on each specific type of disorder. Symptoms may arise suddenly or slowly over time. Sometimes symptoms appear in the first month after a baby is born. In other instances, symptoms develop years later.

Symptoms of metabolic disorders can include:

  • Weight Loss
  • Reduced appetite
  • Delayed development
  • Weight gain issues
  • Stomach pain
  • Jaundice
  • Vomiting
  • Unpleasant breath odor
  • Unpleasant sweat odor
  • Unpleasant saliva odor
  • Unpleasant urine odor
  • Feeling extremely tired
  • Seizures
  • Coma

Common factors that trigger symptoms:

  • Nutrition
  • Illnesses
  • Dehydration
  • Medications


There are several possible metabolic disorder causes. Some metabolic disorders are genetically inherited from parents to their children.

Factors that can cause metabolic disorders:

  • Genetics
  • Hormone deficiency
  • Enzyme deficiency
  • Nutrition
  • Excess substances in the body


Doctors use screening tests to make a metabolic disorder diagnosis. Typically, your doctor will start with a routine physical exam. Your doctor may explore your symptoms, family history, and lifestyle.

Metabolic screening tests examine the patterns of amino acids, fat, and glucose metabolism inside your body. A blood test is also generally included as part of the diagnostic procedures.

Metabolic screening tests help your doctor identify a specific type of metabolism disorder. Some screening tests can be performed prenatally, or before a baby is born. Other screening tests occur during childhood or adulthood.

During a screening test, your doctor might use a metabolism calculator to identify your metabolism rate. Sometimes this is called your basal metabolism rate or BMR. The BMR calculator can help your doctor figure out if you have a slow metabolism or a fast metabolism.

Treatment & Recovery

Metabolic disorder treatment is determined by the specific type and nature of the condition.

Treatment options often include:

  • Changes in nutrition
  • Enzyme replacement
  • Chemical replacement
  • Removal of toxic byproducts

Researchers are testing gene therapies, but these treatments are still considered experimental and not yet publicly available. However, you may want to talk to your doctor about any clinical testing or trials in your area.


Untreated, metabolic disorders can cause severe damage and sometimes be fatal. Different types of metabolic disorders impact the body in different ways. Generally, metabolic disorders can cause organ damage, pain, limited growth, reduced energy, and more.

If you or a loved one experience any of the symptoms of metabolic disorders, please contact an endocrinologist at Baptist Health today.

Next Steps with MyChart

Discover MyChart, a free patient portal that combines your Baptist Health medical records into one location. Schedule appointments, review lab results, financials, and more! If you have questions, give us a call.