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GM2 Gangliosidosis Type I (B Variant)
Tay Sachs Disease
GM2 Gangliosidosis Type I (B Variant)
  Discussion

Clinical Comments

Gangliosidosis is a rare metabolic disorder in dogs. It is commonly known as storage disease because dogs that suffer from it lack an enzyme in their brain that helps with the breakdown of old molecules which build up in the brain effecting the nervous system. Generalised symptoms can vary greatly between dogs but can include: lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay. Specific to GM2-B: difficulty moving and keeping their balance, vision problems, altered mental status (1 and 2 years)

Veterinary Comments

Gangliosidosis is a lysosomal storage disease caused by beta galactosidase deficiency and characterized by progressive neurological deterioration. It is caused by breed-specific mutations. It is commonly known as storage disease because dogs that suffer from it lack an enzyme in their brain that helps with the breakdown of old molecules which build up in the brain effecting the nervous system. Generalised symptoms can vary greatly between dogs but can include: lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay. Specific to GM2-B: difficulty moving and keeping their balance, vision problems, altered mental status (1 and 2 years)

  Genetics
Inheritance
AR
OMIA
001461
OMIA Variant
000026
OMIA URL
https://www.omia.org/OMIA001461/9615/
OMIN
272800
Gene
HEXA
Variants
g.35841247C>T; c.967G>A; p.(E323K)
Variants Comments
Hexosaminidase A
  Testing
Test Types
Genetic-Genomic
Assessments
Specific Genetic Test
Assays
Direct Mutation
Connections
  • Updated
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