- results in accumulation of glucosylceramide in lysosomes of the reticuloendothelial system
- most common mutation is single base change causing substitution of arginine for serine
- characteristic pigmentation on exposed parts (forehand and hands), hepatosplenomegaly, pathological fracture
- diagnosis by finding a deficiency of lysosomal B glucocerebrosidase in leucocytes
- 3 types
Type 1 (non-neuropathic) - commonest
Type 2 (acute infantile neuropathic)
Type 3 (chronic neuropathic)
- high ALP, ACE and Ig levels
- raised acid phosphatase
- definitive diagnosis made by genetic testing
- treatment: enzyme replacement treatment
1 comment:
I was diagnosed as HEPATITIS B carrier in 2013 with fibrosis of the
liver already present. I started on antiviral medications which
reduced the viral load initially. After a couple of years the virus
became resistant. I started on HEPATITIS B Herbal treatment from
ULTIMATE LIFE CLINIC (www.ultimatelifeclinic.com) in March, 2020. Their
treatment totally reversed the virus. I did another blood test after
the 6 months long treatment and tested negative to the virus. Amazing
treatment! This treatment is a breakthrough for all HBV carriers.
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