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.  Attenuated forms of cerebral palsy can be accompanied by no coarse facial features, macrocephalus and cherry-red spots.  

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

Leading symptoms:
Infantile form
(Age of onset: ≤ 6 months)

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

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

  • Development delay/ regression
  • Epilepsy
  • Muscular hypotonia
  • Dysostosis multiplex

Juvenile form
(Age of onset: > 3 years)

  • Ataxia
  • Dysarthria
  • Dystonia/dystonic spastic movement disorder
  • Cognitive impairment

Diagnostics:

  • Measurement of the activity of beta-galactosidase in leucocytes or dried blood spot
  • Molecular genetic analysis of GLB1 Gene

Therapy:
Only symptomatic

Current Studies

Gaucher Disease GM1-Gangliosidosis GM2-Gangliosidosis
Retrieve
Natural history study for pediatric parents with early onset of either GM1 gangliosidoses, GM 2 gangliosidoses, or Gaucher disease typ 2
Age

Birthdate after or at 1 of january 2000

Status active

Patient admission recruiting

Institution SphinCS GmbH

Natural-History-Study
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

At present we have no literature available.