Inborn Errors of Metabolism

Inborn errors of metabolism are relatively rare conditions that interfere with the body’s metabolic processes, rendering it unable to properly turn food into energy. These conditions cause the body to either create an excessive buildup of certain substances or fail to produce enough of them (and possibly even stop producing them altogether). If untreated, inborn errors of metabolism can cause all kinds of medical problems—from developmental delays to life-threatening complications. 

What Causes Inborn Errors of Metabolism? 

Inborn errors of metabolism are always caused by a genetic defect passed from parent to child. Genetic testing can help parents determine the likelihood of their child developing an inherited metabolic disorder, though it should not be taken as a guarantee that the child will or will not develop a condition. 

Symptoms of Inborn Errors of Metabolism 

There are hundreds of known inborn errors of metabolism and many have their own unique symptoms. Some general symptoms include: 

  • Inadvertent weight loss (cachexia) 
  • Developmental delays throughout childhood 
  • Immunodeficiency, anemia and enlarged lymph nodes 
  • Excessive urination, often accompanied by abdominal pain 
  • Hypotension or hypertension 
  • Joint pain, cramps and muscle weakness 

In some cases, these complications can also cause a patient’s organs to fail. Heart failure, respiratory failure and liver failure may all occur with severe, progressive inborn metabolic disorders. At this point, advanced intervention, such as a transplant, may be necessary. 

Diagnosing Inborn Errors of Metabolism 

A genetic mutation can lead to the development of one of the numerous inborn errors of metabolism, which include:

  • Galactosemia 
  • Gaucher disease 
  • Hunter syndrome 
  • Krabbe disease 
  • Maple syrup urine disease 
  • Metachromatic leukodystrophy 
  • Niemann-Pick 
  • Phenylketonuria 
  • Porphyria 
  • Wilson’s disease 

Some of these disorders are identified at birth during screening tests, while others may not become apparent until a patient shows symptoms later in life. 

Treating Inborn Errors of Metabolism 

Treatment of a patient’s inherited metabolic disorder will depend on the nature of the condition, though a combination of dietary changes and medication is often used. The endocrinologists at Tampa General Hospital can help patients develop the treatment plan that works best for them as they manage their condition.