Background: The knowledge of the pathophysiology of Lysosomal Storage Disorders has
gradually increased, but information on their incidence is still scarce. The objective of this study was to
evaluate the status and use of resources of these disorders in Spain from 1997 to 2015.
Methods: Records from 4,999 patients diagnosed with a Lysosomal Storage Disorder were extracted
from a Spanish database containing data from public and private hospitals from 1997 to 2015.
Results: The database registered 2,441 patients with an LSD in Spain during the study period. Leukodystrophy,
Krabbe disease, Pelizaeus-Merzbacher disease and sulfatide lipidosis represented, as a
group, the most common combination of diseases in Spain, affecting 26% of total patients. The average
age of diagnosis of these disorders was 16.7 years. A sex bias was observed in most of the groups,
with a proportion of male/female of 60 to 40%. The direct medical cost of Lysosomal Storage Diseases
was €5,686 per patient with an average cost per hospital admission of €4,923. Global costs displayed a
Conclusion: Contrary to worldwide disease incidence estimations, the group with Krabbe disease registered
the highest number of patients in the study period, which makes evident the need for accurate
regional disease incidence and patient demographic studies. Altogether, data suggest the need to improve
LSDs diagnostic protocols, and support the inclusion of these disorders in standard newborn