The world of rare metabolic diseases is complex and multi-faceted, composed of many different pathologies which are themselves rare or even ultra-rare, but which cumulatively afflict a considerable number of patients.
These pathologies are all based on a genetic defect, often inherited, which leads to the body’s inability to manage the synthesis of a specific enzyme, either catabolic or anabolic. The insufficient presence, incorrect sequence / folding or even absence in the body of this enzyme results in intracellular accumulation or the lack of a specific protein, lipid or glucose substances.
It can, therefore, be understood that, depending on which target organ the substance accumulates in (or in which it is deficient), the clinical presentation and prognosis of the disease can be substantially different: from, for example, pathologies of moderate severity affecting internal organs such as the spleen and liver, to others characterized by having a very severe neurological impact and an extremely rapid course.
The world of rare metabolic diseases has recently become increasingly interested in the search for therapeutic solutions that, despite not offering a definitive cure for these serious ailments, can nonetheless significantly change patients’ life expectancy and quality of life.
PIAM, in line with its basic values of excellence and responsibility, has decided to be present in this medical area, making various treatments for these pathologies available as quickly as possible. These treatments are characterized by innovation, ease of access and convenience of administration.