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My name is Pramod Mistry.
I'm a Professor at Yale
School of Medicine
in New Haven Connecticut.
I'm from Internal
Medicine and Pediatrics
with a major interest
in Gaucher disease.
Today we are going to discuss
"Gaucher Disease Type 3",
and my presentation is
going to be in two parts.
In the first part we'll
talk about the genetics
and the phenotypes of
Type 3 Gaucher disease.
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In the first part,
we will discuss taxonomy of
Type 3 Gaucher disease and
the natural history of
Type 3 Gaucher disease,
as well as biomarkers
that can help us monitor
patients and perhaps assess
response to therapies.
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Gaucher disease is an
important inborn error of
metabolism due to biallelic
mutations in the gene GBA.
This gene codes for
a lysosomal enzyme called
acid beta-glucosidase,
otherwise known as lysosomal
glucocerebrosidase.
When there is a genetic
deficiency of this enzyme,
it leads to the build-up of
its substrate shown
here, glucocerebroside.
This lipid builds up
in the lysosomes of
cells most prominently in
the macrophages
throughout the body.
Three main phenotypes
are recognized.
Type 1 non neuronopathic
disease which
is panethnic but
it is prevalent in
the Ashkenazi Jewish population
affecting one in 850 individuals
and its onset is in childhood
or in adulthood even
up to the age of 80.
In these presentations
we are not going to be
focusing on Type 1
Gaucher disease,
instead we will focus on Type
2 Gaucher disease and Type 3.
Type 2 Gaucher disease is called the
acute neuronopathic disease which affects
approximately one in
100,000 individuals.
Its onset is in the first
months of life and usually
the devastating
neurodegenerative disease leads
to death within the first
one or two years of life.
Type 3 is the chronic
neuronopathic disease,
is also panethnic and its
onset is in childhood,
but its neurodegenerative
phenotype
is milder than in Type 2.
In both Type 2 and Type
3 Gaucher disease,
there is in addition
severe visceral disease
with hepatosplenomegaly,
cytopenia and failure to thrive.
