Inborn metabolism errors, also known as inborn errors of metabolism (IEM), refers to a group of genetic disorders characterized by abnormalities in specific biochemical pathways that are responsible for the metabolism of various substances within the body. These disorders are present from birth and are usually inherited in an autosomal recessive manner, meaning that both copies of a specific gene must be abnormal in order for the disorder to manifest.
Inborn metabolism errors result from defects in enzymes, which are proteins that facilitate the chemical reactions necessary for metabolism. Enzymes are crucial for breaking down nutrients, such as proteins, carbohydrates, and fats, into smaller molecules that can be utilized by the body for energy and other essential processes. Therefore, when an enzyme is deficient or non-functional due to a genetic mutation, the affected individual is unable to properly process certain substances, leading to the accumulation of toxic metabolites or the lack of necessary metabolites.
The clinical manifestations of inborn metabolism errors vary depending on the specific disorder and the metabolic pathway involved. Some common symptoms include developmental delays, failure to thrive, intellectual disability, seizures, organ dysfunction, and various neurological and physical abnormalities. Early diagnosis and intervention are crucial in managing these disorders, as certain treatment options, such as dietary modifications, enzyme replacement therapies, and medication, can help alleviate symptoms and prevent further complications.
Inborn metabolism errors represent a diverse group of disorders, including but not limited to, phenylketonuria, maple syrup urine disease, galactosemia, and lysosomal storage disorders. Genetic counseling and testing may be recommended for families with a history of these disorders to assess their risk and facilitate early intervention if necessary.
