Introduction:
Mucopolysaccharidoses are chronic progressive lysosomal metabolic diseases. Due to deficiencies of lysosomal enzymes involved in the breakdown of glycosaminoglycans (GAG), there is an accumulation of these storage substrates in various organs – also the mucous membranes of the upper respiratory tract. ENT infections, hearing loss, either conductive or neurosensory, or both are often the result. So far, there have been no studies evaluating the sense of smell and taste of these patients. The aim of this study was to investigate this in detail.
Methods:
15 patients (8 boys and 7 girls) aged 6 – 20 were examined, who regularly get enzyme replacement therapy for MPS at our paediatric clinic. Olfactometry was performed with sniffin' sticks and gustometry with the four flavours of varying concentrations.
Results:
Olfactometry showed normosmy in all patients, where children at the age of 6 did not recognize 2 of the fragrances (clove, rose). In gustometry, the older children/adolescents showed normogeusia, while the younger ones showed dysgeusia in all cases.
Conclusion:
The study shows that our patient collective has no change in sense of smell and only partly in sense of taste. Pathophysiologically, however, it seems obvious that a disturbance should occur due to the storage in the area of mucous membranes and the tongue. Further studies need to be done to show the comparison with/without enzyme replacement therapy and to assess more accurately the causes of dysgeusia in the younger patients.
