Symptoms

Symptoms of metabolic disorders vary based on the specific disorder and its severity. Common symptoms include:

• Unintended weight loss or failure to gain weight and grow in infants and children.
• Unexpected weight gain.
• Fatigue and lack of energy.
• Skin changes, such as altered color, easy bruising, thinning, or slow healing.
• Abdominal pain and vomiting.
• Decreased appetite.
• Persistent hunger and thirst despite eating.
• Developmental delays in infants and children, missing expected milestones.

When to See a Doctor

See a doctor if you or your child:

• Experiences unintended weight loss or gain, or isn’t growing properly.
• Feels frequently hungry or thirsty despite eating and drinking.
• Needs to urinate often.
• Feels lethargic and lacks energy.
• Frequently vomits or complains of belly pain.
• Has yellowish skin (jaundice) or other skin changes.
• Struggles to do what other children of the same age can do.

Causes

There are many causes to metabolic disorders.

• Some metabolic disorders are genetic. A gene responsible for a specific metabolic process or the production of a chemical or enzyme can mutate. This genetic change can be inherited from parents or occur spontaneously.
• Other metabolic disorders arise when an organ involved in metabolism, such as the pancreas or thyroid, becomes diseased or damaged.
• Some metabolic disorders have unknown causes. For instance, researchers are unsure why certain individuals develop type 1 diabetes, an autoimmune disorder.

Diagnosis and Tests

To diagnose a metabolic disorder:

• The doctor will discuss your family’s health history and your symptoms (or your child's symptoms).
• The doctor may order a blood test called a metabolic panel. This set of tests checks for the presence of the correct chemicals in your blood for proper metabolism. Depending on the situation, the doctor may request a basic metabolic panel or a comprehensive metabolic panel, which includes additional tests.

Treatments

Treatment for metabolic disorders varies based on the specific disorder. Common treatments include:

• Dietary and lifestyle changes. You may need to avoid certain foods that your body cannot process properly.
• Medications. Medications can provide the body with substances it lacks, such as insulin for diabetes. They can also help manage symptoms, improve well-being, and prevent life-threatening emergencies.