Overview
Inherited metabolic diseases are a type of genetic disorder caused by mutations in genes responsible for the body’s ability to properly metabolize specific compounds. They can lead to a range of symptoms, from mild physical to serious neurological issues, and sometimes even death. Examples include Tay-Sachs disease, cystic fibrosis, and phenylketonuria. Diagnosis and early detection of these diseases is important, as some can be treated through dietary and lifestyle changes, while others require well-managed medical care. It is important to raise awareness of these conditions so that individuals and families at risk can be tested and receive the necessary treatment.
Research published in this journal
No peer-reviewed research on this exact topic has been published in Advanced Therapeutic Science yet. Browse the journal →