6 doctors weighed in:

Are there different types of genes associated with tay-sach's?

6 doctors weighed in
Dr. Ira Salafsky
Clinical Genetics
5 doctors agree

In brief: Rarely yes

Almost all patients with tay-sach lack hexosaminidse a activity due to mutations in the hex a gene.
The infantile form have less than 5% activity while the juvenile and adult forms have partial deficiencies. A very small subset of patients have normal hex a activity but have a mutation in the gm2 activator gene that codes for the intralysosomal protein, gm2 activator that degrades gangliosides.

In brief: Rarely yes

Almost all patients with tay-sach lack hexosaminidse a activity due to mutations in the hex a gene.
The infantile form have less than 5% activity while the juvenile and adult forms have partial deficiencies. A very small subset of patients have normal hex a activity but have a mutation in the gm2 activator gene that codes for the intralysosomal protein, gm2 activator that degrades gangliosides.
Dr. Ira Salafsky
Dr. Ira Salafsky
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