Inherited metabolic disorders are conditions or disorders that are passed down genetically from one or both parents. These disorders affect the person’s metabolism, the way that their body processes food, water, and other nutrients. Oftentimes, this is due to defective genes. Most cases of inherited metabolic disorders occur due to genetic defects that are inherited from both parents.
There are many different types of inherited metabolic disorders, but most are due to an enzyme deficiency that causes problems with metabolism. Metabolism works by a series of chemical reactions that break down the substances that enter your body into energy that can be used immediately or stored for future use when needed. When this process breaks down, it can have numerous effects including a lack or deficiency in certain nutrients or buildups of substances in the body that could be extremely dangerous.
Some of the types of inherited metabolic disorders affect lysosomal storage. Lysosomes break down waste in the body and as such, a malfunction can lead to a dangerous buildup of toxins in the blood. Other disorders affect different factors of metabolism like the breakdown of sugars, activities of the mitochondria, and a myriad of other metabolic processes.
Some inherited metabolic disorders can be diagnosed with blood tests at birth and thus do not need to present symptoms to be detected. However, there are notable symptoms that many inherited metabolic disorders cause.
Vomiting, lethargy or easy fatigue, growth issues of failure to thrive (i.e. not gaining weight subsequent with age), abdominal pain, and a lack of appetite. Serious symptoms can also occur like jaundice, seizures, coma, and even death.
The purpose of treatment for inherited metabolic disorders is to try to find a way to get around the genetic defect.
Sometimes, a highly specialized diet to eliminate certain foods and nutrients can be effective. Medications to replace missing or ineffective enzymes may also be possible depending on the specific metabolic condition. Treating the blood to remove toxins is also a potential treatment for inherited metabolic disorders.