Metabolic Diseases & Disorders 

Metabolic disorders occur when your body’s biochemical pathways are disrupted. Our highly skilled endocrinologists at Houston Methodist can help you identify and manage the varied conditions that arise from metabolic problems.

Types and Causes of Metabolic Disorders
Some metabolic disorders are genetic, in which case they are often called inborn errors of metabolism. Exposure to environmental factors may cause acquired metabolic disorders. Liver or respiratory failure and cancer can also cause metabolic problems.

Genetic metabolic disorders, or inborn errors of metabolism, have various effects on the body.

• Tay-Sachs disease affects nerve cells in the brain and spinal cord and can result in seizures, hearing and vision loss, loss of motor skills and even paralysis.
• Gaucher disease affects fats (also called lipids) resulting in enlargement of the liver and spleen, anemia, and bruising; in severe cases, lung disease and bone abnormalities can result, such as pain, fractures and arthritis.

 Acquired metabolic disorders have many causes:

• Abuse of alcohol or other drugs, including laxatives or diuretics 
• Poisons, such as ethylene glycol or methanol
• Overuse of medications such as aspirin or acetaminophen
• Kidney (renal) problems
• Respiratory failure due to infection or trauma 
• Blood infection (sepsis)

Symptoms of Metabolic Disorders
Disturbances in chemical pathways in the body result in various signs and symptoms, which can differ in intensity among individuals and can occur at different times.
 
Any of the following life-threatening conditions, all of which may be associated with metabolic disease, require emergency care (call 911):

• Bluish discoloration of the skin or lips
• Loss of consciousness or fainting
• Altered mental state ranging from confusion and disorientation to hallucinations and delusions
• Problems breathing problems
• Seizure 

Life-threatening symptoms, such as breathing problems, seizure and organ failure can occur with acute metabolic disturbance, such as too much alcohol.

Treating Metabolic Disorders
At Houston Methodist, once the specific metabolic disorder is diagnosed, our expert endocrinologists design an individual treatment plan for that condition. 

• Inborn errors of metabolism can often be controlled or resolved with nutritional changes or special diets. 
• Acquired metabolic disorder treatment starts with normalizing the metabolic imbalance — for example, eliminating an ingested toxin and administering medications to alleviate symptoms.

Some metabolic disorders are managed with lifestyle changes, such as healthy eating and avoiding too much sugar, and others require medication. Some inherited metabolic disorders are treated by long-term nutritional supplements, while metabolic disorders that arise as a result of another disease or condition often resolve with treatment of the underlying condition.