What are metabolic disorders?
Metabolic disorders are different conditions that affect the body’s metabolism and ability to break down food. Metabolic disorders are commonly inherited from the family, where they have inherited a defective gene that results in enzyme deficiency. These are called inherited metabolic disorders. There are hundreds of different metabolic disorders and symptoms, prognosis and treatment can vary widely.
Metabolism is the complex set of chemical reactions and processes that allow the body to create energy. Enzymes and certain chemicals are necessary for this and if these enzymes or chemicals are not available, a metabolic disorder occurs.
There are different types of metabolic disorders:
- Disorders in which a certain enzyme or chemical builds up because it cannot be broken down.
- Disorders that have too little of a certain enzyme or chemical.
- Disorders in which certain enzymes or chemicals are missing.
A hereditary metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase. This can lead to physical and learning disabilities if left untreated.
Other inherited metabolic disorders include:
- Medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
- Maple Syrup Urine Disease (MSUD)
- Glycogen storage disease (GSD)
- Galactosemia
- Mitochondrial disorders
Prognosis of metabolic disorders
Depending on the type of metabolic disorder and how well it is controlled, children and adults can become quite ill and need hospitalization for metabolic disorders. Some that are detected at birth, if treated, can improve.
There are hundreds of different metabolic disorders, with their prognosis, symptomatology and treatment for each case.
Symptoms of metabolic disorders
Symptoms of metabolic disorders vary depending on the type of disorder and can be chronic or appear suddenly. In inherited metabolic disorders, symptoms may present shortly after birth, but some will only be obvious for years. Symptoms may include:
- Tiredness
- Nausea
- Weight loss
- Lack of appetite
- Abdominal pain
- Convulsions
- Jaundice
- Developmental delays
- Coma
Medical tests to diagnose metabolic disorders
All infants are screened for certain inherited metabolic disorders. If a baby is suspected of having a metabolic disorder after birth, blood tests will be done to determine this. If a metabolic disorder is not detected at birth, sometimes the symptoms will not appear for a while, which will require blood tests and DNA analysis to diagnose it.
What are the causes of metabolic disorders?
Most metabolic disorders are caused by the fact that a single enzyme is either not produced by the body or does not function properly. The code needed to create that specific enzyme is contained in a pair of genes which, if defective, can cause a metabolic disorder. However, only children who inherit two copies of a defective gene from their parents can develop a metabolic disorder.
Can metabolic disorders be prevented?
Inherited metabolic disorders cannot be prevented, however, if they are monitored and treated early, the prognosis is often better.
Treatments for metabolic disorders
There are no cures available for inherited metabolic disorders, however, treatment focuses on overcoming problems with metabolism. However, treatments may vary depending on the type of metabolic disorder. This may involve a special diet that eliminates certain nutrients, taking enzyme replacements or detoxifying the blood of dangerous chemicals that have accumulated as a result of impaired metabolism.
What type of specialist treats metabolic disorders?
An endocrinologist would treat metabolic disorders.