GM 1 Gangliosidosis
aka Beta-Galactosidase-1 deficiency, [Types 1, 2, 3,]
Pathogenesis
- Beta-Galactosidase-1 deficiency results in failure of GM 1 ganglioside breakdown, which results in toxic accumulation of GM 1 ganglioside within lysosomes, which leads to brain damage (GM 1 ganglioside is key to nerve cell functioning).
Clinical
- Onset: Infancy to Adulthood (depending on the severity)
- Presentation: Developmental Regression with Exaggerated Startle.
- Systemic manifestations: Hepatosplenomegaly, Skeletal Dysplasia, Catarcts, Retinal Deterioration, Cherry-red spot on retinal exam, Coarse Facial Features, Cardiomyopathy
- Neurological manifestations: Cognitive Delay, Seizures, Type 3 – Dystonia and Vertebral Abnormalities.
Genetics
- GLB 1 gene mutation
- Autosomal Recessive
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov