GM1-gangliosidosis caused by lack of ß-galactosidase has characteristics of mucopolysacharidosis and sphingolipidosis. ß-galactosidase plays a role in both metabolic pathways and is deficient in this disease. Macrocephalus and dysostosis multiplex are findings whose cause can be found in the defect of the mucopolysaccharide metabolism. In contrast, neurological findings - motor developmental disorder, pyramidal tract signs, cherry-red spot, epilepsy and mental retardation - are to be interpreted in terms of sphingolipidosis. In the course of the disease, pronounced spastic cerebral palsy dominates the clinical picture. Attenuated forms of cerebral palsy can be accompanied by no coarse facial features, macrocephalus and cherry-red spots.
Etiology: Deficiency of beta-galactosidase
Gene: GLB1 Gene
Mode of inheritance: Autosomal recessive
(Age of onset: ≤ 6 months)
(Age of onset: > 6 months -3 years)
(Age of onset: > 3 years)
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