This was the test result from the fibroblast…
HETEROZYGOUS 84_85insG MUTATION
This is the fibroblast results
Beta-D-Glucosidase/Gaucher Disease
SAMPLE ACTIVITY
mmol/min/mg protein
PATIENT RESULTS 0
Normal Control 1 4.1
Normal Control 2 3.5
Affected Control 0
Control Range 3.0-10.0
N/A=not available
Source: SFC
INTERPRETATION:
DEFICIENT: This is diagnostic for Gaucher Disease in this patient.
According to the Gaucher’s specialist back east, this is what he had to say about it.
The 84 GG mutation is found exclusively in Ashkenazi Jews and it almost certainly the mutation that Mom has as a carrier. Dad’s mutation will almost certainly turn out to be rare and will have to be identified with sequencing. At this point, we can’t know whether Hannah’s genotype will be one that is associated with type 3 disease or not. The 84GG allele is associated with no mutant enzyme production which means that patients who have this allele often have more severe and aggressive systemic disease. However, it does not mean that they will have neuronopathic disease. Regardless of the genotype, the systemic manifestations usually respond very well to enzyme replacement treatment.
Does this mean it could be type 1 and not type 3??? I emailed him back just now, and hopefully he will answer me soon.
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