Inherited metabolic disorders, or inborn errors of metabolism, are genetic disorders affecting the metabolism. There are many different diseases that are categorized as inherited metabolic disorders. The only requirements for a disease to be considered an inherited metabolic disorder are for you to have inherited it from your parents and for the disease to affect the metabolism.
Inherited metabolic disorders are often serious conditions because of their impact on the metabolism. Your metabolism is responsible for helping you process and digest food, create energy, and live a normal life. Therefore, when your metabolism isn’t working properly, you’re at risk for a number of major health conditions.
There are more than 100 different inherited metabolic disorders, and they fall into different categories depending on the part of the metabolism they impact. However, because of how they affect the metabolism, most inherited metabolic disorders will result in the same symptoms.
Because this type of disorder is an inherited condition, people typically start displaying symptoms early in life. However, symptoms will vary from person to person, may come and go, and will vary depending on the type of condition you have. Certain inherited metabolic disorders also result in more symptoms than others.
Like all inherited or genetic conditions, inherited metabolic disorders are inherited by children from their parents. The inherited condition usually results in a defective gene, which causes abnormalities in certain hormones or enzymes. A single enzyme or hormone that isn’t functioning properly can cause serious health complications.
In order for a child to receive an inherited metabolic disorder, both parents need to be carriers of the genetic defect. As a result, inherited metabolic disorders are fairly rare but still happen more often than they should. Additionally, if only one parent is a carrier of the genetic defect or mutation, their children will also become carriers but won’t develop a metabolic condition.
To date, the only known risk factor for inherited genetic disorders is having a family history of a specific disorder.
The best way for doctors to diagnose inherited metabolic disorders is with genetic screening and testing. Physical symptoms may help, but the symptoms of inherited metabolic disorders are very similar to those of other conditions. Here are some of the tests your doctor might use to diagnose an inherited metabolic disorder.
Genetic and metabolic testing are comprehensive tests that examine amino acids, fatty tissue, and much more. Abnormalities in these elements could indicate an inherited metabolic disorder.
A blood test is one of the more affordable ways to check for an inherited metabolic disorder. Blood is tested to see if you’re missing a certain enzyme or hormone, which is indicative of a disorder.
Depending on the type of inherited metabolic disorder, your doctor may need a tissue sample instead of a blood sample. The tissue is tested for a missing enzyme or hormone or possible genetic mutation.
Unfortunately, there’s no cure for inherited metabolic disorders. Treatment and management protocol for these disorders will vary from person to person depending on the specific disorder you have. However, it usually involves the following methods.
The most effective treatment for any type of metabolic disorder is altering your diet and lifestyle. It’s important to add or remove certain things from your diet to prevent complications. You also shouldn’t smoke or drink alcohol if you have an inherited metabolic disorder.
Replacing or supplementing the missing enzyme from your system is essential.
Certain medications can help ease symptoms of inherited metabolic disorders and treat the condition.