[Inherited metabolic diseases in adults : from diagnosis to treatment].

Inherited metabolic diseases are genetic diseases that are individually rare but collectively common. Although they are classically considered as pediatric diseases, many patients are seen in adulthood, either due to a misdiagnosis over several years or a late initial presentation. A diagnosis in adulthood is crucial because it can lead to the implementation of specific treatments that improve patients' quality of life. Once a diagnosis is made, specialized genetic counseling helps identify and potentially treat other at-risk family members.