Case Study
How old is the patient?
15 years old
How many different diagnoses are there?
3 (Infantile, Juvenile, and late-onset)
What is the key pathway?
Lysosomal degradation of gangliosides
What chromosome is the mutation in?
15q
What was she originally diagnosed with?
Cavovarus Deformity
What are the typical symptoms of Infantile?
Mild motor weakness, irritability, and hypersensitivity to auditory and other sensory stimuli
What is the key enzyme that catalyzes the removal of the N-acetylgalactosamine residue from GM2?
HexA (B-hexosaminidase A)
What ganglioside is there a buildup of?
GM2
Why was she taken off the miglustat treatment?
Due to muscle weakness, functional impairment, and changes in bowel habits
When can symptoms start in someone with late-onset Tay-Sachs?
Late adolescence or early adulthood
What cofactor does this reaction require?
GM2A
The HexA enzyme cannot cleave from which terminal of the GM2 ganglioside?
GalNAc