Individually rare but collectively affect 1 in 5,000 live births
Lysosomal Storage disorders and their impact on patients
Depending on the affected pathway, storage disorders can lead to harmful metabolite accumulations in different organs and body parts including, not exclusively, the liver, spleen, heart, kidney, skin, bones, and brain.
Symptoms therefore range anywhere from organ enlargement/dysfunction, abnormal bone growth, impaired hearing and vision, developmental delay, and cognitive dysfunction to neuropathological effects such as seizures and movement disorders. As these diseases are triggered by the relevant inherited mutations, multiple primary defects can be detected early on, sometimes leading to the premature death of newborns and young children. In some of these rare metabolic diseases, patients may reach adult age while affected by severe progressive morbidity
Regardless of the defective pathway, early treatment is critical for these genetic diseases given their progressive nature and severity. Although specific therapies are now available for some of these diseases, many patients can only receive palliative care with marginal or no improvements when it comes to these neuronopathic conditions.