Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
JCL Roundtable: enzyme replacement therapy for lipid storage disorders.
[fabry disease]
There
are
several
inherited
disorders
that
involve
abnormal
storage
of
lipids
in
tissues
leading
to
severe
compromise
of
organs
.
Sadly
,
these
are
often
accompanied
by
lifelong
morbidity
and
early
mortality
.
Disorders
such
as
Gaucher
,
Fabry
,
and
lysosomal
acid
lipase
deficiencies
(
Wolman
and
cholesteryl
ester
storage
diseases
)
have
been
known
for
many
years
,
and
provide
a
difficult
and
frustrating
set
of
problems
for
patients
,
their
families
,
and
their
physicians
.
With
recombinant
methods
of
protein
synthesis
,
it
is
now
possible
to
literally
replace
the
defective
enzymes
that
underlie
the
basic
pathophysiology
of
many
such
disorders
.
The
delivery
of
these
enzymes
into
the
affected
cells
is
possible
because
of
their
location
in
the
lysosomes
where
the
natural
degradation
of
their
lipid
substrates
occurs
.
I
have
asked
2
well-known
investigators
to
join
us
for
this
Roundtable
.
These
are
professors
who
have
been
involved
with
the
research
that
has
made
this
type
of
therapy
possible
and
who
have
participated
in
the
clinical
trials
that
demonstrated
the
value
of
enzyme
replacement
therapy
.
They
are
Dr
.
Robert
Desnick
,
dean
of
Genetic
and
Genomic
Medicine
and
professor
and
chairman
emeritus
of
the
Department
of
Genetics
and
Genomic
Sciences
at
the
Icahn
School
of
Medicine
at
Mount
Sinai
in
New
York
City
,
and
Dr
.
Gregory
Grabowski
,
professor
of
Microbiology
,
Biochemistry
,
and
Pediatrics
,
at
the
University
of
Cincinnati
College
of
Medicine
.
Dr
.
Grabowski
recently
retired
from
that
school
to
become
the
chief
science
officer
of
Synageva
,
a
company
involved
in
producing
enzymes
for
this
type
of
therapy
.
Diseases
Validation
Diseases presenting
"defective enzymes"
symptom
fabry disease
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