Inherited metabolic diseases

The world of rare metabolic diseases is complex and multifaceted, encompassing numerous pathologies that are rare or even ultra-rare but collectively affect a significant number of patients.

At the root of these diseases lies a genetic defect, often hereditary, that leads to the body’s inability to properly synthesize a specific enzyme—whether catabolic or anabolic. The insufficient presence, incorrect sequencing/folding, or complete absence of this enzyme results in the intracellular accumulation or deficiency of specific substances, such as proteins, lipids, or carbohydrates.

It follows that, depending on the target organ where the substance accumulates (or is deficient), the clinical presentation and prognosis of the disease can vary significantly. For example, some conditions may present with moderate severity, affecting internal organs like the spleen and liver, while others involve severe neurological impairment with an almost fulminant course.

In recent years, rare metabolic diseases have garnered increasing attention in the search for therapeutic solutions that, while not providing a definitive cure, can significantly improve both life expectancy and quality of life for patients.

PIAM, in line with its core values of excellence and responsibility, has committed to supporting the medical community in this field by rapidly providing innovative treatments that ensure accessibility, ease of administration, and therapeutic advancement for these conditions.