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
What are the typical symptoms of Juvenile?
Incoordination, clumsiness, and muscle weakness
What cofactor does this reaction require?
GM2A
The HexA enzyme cannot cleave from which terminal of the GM2 ganglioside?
GalNAc
How much weight did she lose?
About 14 kg
When can symptoms start in someone with late-onset Tay-Sachs?
Late adolescence or early adulthood
What does this cofactor do?
Presents the GM2 to HEXA enzyme
What does the accumulation of GM2 lead to?
Autosomal swelling, impaired trafficking, and neurogeneration
What year was she referred to a dietitian?
2018
What disease is Tay-Sachs characterized by?
Sphingolipidoses disorder