Introduction. Gangliosidoses occur due to inhereted deficiency of human ? -
galaktosidase,resulting in the accumulation of glicophyngolipides within the
lisosomes. Clinical manifestations of lysosomal storage disorders are
remarkably heterogeneous, they can appear at any age and each of them can vary
from mild to severe conditions. Case report. We present a patient with an
early, infintile type of GM1 gangliosidosis. The facial features were coarse:
hypertelorismus, wide nose, depressed nasal bridge with lingual protrusion.
From the very first months of life she had severe generalized hypotonic,
delayed development and hapatosplenomegaly. Before she died, when she was 13
months old, she had not had any spontaneus movements, she was deaf and blind,
dispnoic, with apnoiccrises, with amimic face, but without seizures and
decerebrate rigidity, which often accompanies the terminal stage of this
illness. Conclusion. The absence of ?-galaktosidase enzyme activaty at the
skin fibroblasts confirmed the definitive diagnosis. There has been no
successful treatment so far, but increasingly better results of the gene
therapy for other lysosomal storage disorders can make us optimistic.
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases
