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Metabolic Disorders 

Improper hormone levels can alter the body’s metabolism and affect its function, leading to metabolic disorders. A metabolic disorder is the result of a chemical imbalance in the body that affects metabolism, which is the process of converting food into energy and breaking down (or building up) essential substances. When the body can’t produce the right amount of hormones needed for proper metabolic functions, a metabolic disorder is either the cause or an effect to come later. 

Causes of Metabolic Disorders 

Although the exact causes for all metabolic disorders are not known, genetics are believed to play a large role in their development. These disorders can either be inherited and present at birth or symptoms will display later in life. 

Diabetes, perhaps the most well-known metabolic disorder, is usually diagnosed in adults as type 2 diabetes or gestational diabetes. Type 1 diabetes, an autoimmune disorder, is most often diagnosed in people age 20 and younger. Other factors linked to the development of diabetes include environmental factors and, in the case of type 2 diabetes, being overweight. 

Inborn errors of metabolism, or inherited metabolic disorders, are caused by genetic defects. There are hundreds of known inherited disorders, some of which include: 

  • Gaucher disease 
  • Hunter syndrome 
  • Krabbe disease 
  • Maple syrup urine disease
  • Niemann-Pick 
  • Phenylketonuria 

Symptoms of Metabolic Disorders 

In many metabolic disorders, shared symptoms include unexpected weight loss, excessive urination and weakness. 

Symptoms of diabetes also include: 

  • Extreme thirst 
  • Blurred vision 
  • Difficulty concentrating In
  • creased hunger 
  • Fatigue 
  • Irritability and other mood changes 
  • Tingling hands and feet 

Shared symptoms of the many known inborn errors of metabolism include: 

  • Developmental delays throughout childhood 
  • Immunodeficiency, anemia and enlarged lymph nodes 
  • Excessive urination accompanied by abdominal pain 
  • Hypotension or hypertension
  • Joint pain and cramps 

Diagnosing Metabolic Disorders 

Doctors can diagnose diabetes with a series of tests to check glucose levels in the blood. Inborn errors of metabolism are either caught in routine screenings at birth or identified later when symptoms appear in children or adults. 

Treating Metabolic Disorders 

Because there are hundreds of known metabolic disorders, there is no one-size-fits-all treatment method. Depending on the nature of one’s disorder, treatment can be as simple as making diet and lifestyle changes or as intensive as getting a liver transplant. No matter the condition, Tampa General Hospital’s endocrinology team is prepared to find the treatment plan that best suits each individual patient’s needs.