Lysomal Storage Disorder

The Crocodile

GM1-Gangliosidosis

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. In attenuated forms coarse facial features, macrocephalus organomegaly and cherry-red spots can be absent.

GM1-Gangliosidosis | SphinCS - Clinical Science for LSD

Etiology: Deficiency of beta-galactosidase
Gene: GLB1 Gene
Mode of inheritance: Autosomal recessive
Phenotypes:

  • Infantile form
  • Late-infantile form
  • Juvenile form
  • Adult form

Leading symptoms:
Infantile form (Type I)
(Synonym: Norman-Landing-Syndrome)

(Age of onset: ≤ 6 months)

  • Development delay/ regression
  • Muscular hypotonia
  • Severe tetra spasticity 
  • Cherry red spot
  • Dysostosis multiplex
  • Hepatosplenomegaly
  • Cardiomyopathy

Late-infantile form (Type IIa)
(Age of onset: > 6 months -3 years)

  • Psychomotor retardationdevelopmental delay / regression
  • Epilepsy
  • Muscular hypotonia
  • Dysostosis multiplex

Juvenile form (Type IIb)
(Age of onset: > 3 - 10 years)
(Synonym: Derry-Syndrom)

  • Ataxia
  • Dysarthria
  • Extrapyramidal signs
  • Extrapyramidal signs
  • Dystonia / dystonic spastic movement disorder
  • Cognitive impairment in terms of dementia of early childhood
  • Dysostosis multiplex
  • Epilepsy

Adult form (Type III)
(Age of onset: > 10 years)

  • Ataxia
  • Dysarthria
  • Extrapyramidal signs
  • Dystonia/dystonic spastic movement disorder
  • Cognitive impairment in terms of early dementia
  • Dysostosis multiplex
  • Epilepsy

Diagnostics:

  • Measurement of the activity of beta-galactosidase in leucocytes or dried blood spot
  • Molecular genetic analysis of GLB1 Gene
  • Cave: clinical and diagnostical differention regarding MPS IV B (Morquio B) and Galactosialidosis

Therapy:
Individually, symptomatic

Current Studies

GM1-Gangliosidosis GM2-Gangliosidosis
Gangliosidosis „8 in 1“
This is a retrospective and prospective and longitudinal, non-interventional study on the natural course of gangliosidoseovers over 5 years
Age

No age limit

Status active

Patient admission recruiting

Institution SphinCS Lyso gemeinnützige UG (haftungsbeschränkt)

Register-Study
The "U.S. National Library of Medicine" provides a complete list of all international studies at www.clinicaltrials.gov. The comparable EU website is less comprehensive: www.clinicaltrialsregister.eu.

Self-help groups

At the moment we are not aware of any self-help groups.

Literature

Hofer, D., K. Paul, K. Fantur, M. Beck, A. Roubergue, A. Vellodi, B. J. Poorthuis, H. Michelakakis, B. Plecko, and E. Paschke

Phenotype Determining Alleles in Gm1 Gangliosidosis Patients Bearing Novel Glb1 Mutations
Clin Genet 78, no. 3 (Sep 2010): 236-46.
Link to the publication

At present we have no literature available.

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