Rare Diseases Symptoms Automatic Extraction
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Cardiovascular disease biomarkers in patients with inborn errors of protein metabolism: a pilot study.
[phenylketonuria]
Limited
data
exist
so
far
on
cardiovascular
disease
biomarkers
in
patients
maintained
on
a
protein-
restricted
diet
for
inborn
errors
of
protein
metabolism
.
The
present
study
aimed
to
analyse
plasma
cholesterol
,
lipoproteins
,
triglycerides
and
total
homocysteine
in
patients
with
various
inborn
errors
of
protein
metabolism
in
comparison
with
healthy
controls
.
A
cross-sectional
study
of
cardiovascular
disease
biomarkers
was
conducted
in
a
cohort
of
patients
with
inborn
errors
of
protein
metabolism
:
nine
phenylketonuria
,
nine
urea
cycle
defect
,
six
branched
chain
organic
acidaemia
and
two
tyrosinaemia
type
I
patients
compared
to
30
healthy
controls
.
All
patients
were
on
a
strict
natural
protein
diet
for
a
mean
(
SD
)
period
of
5
.
37
(
2
.
30
)
years
(
range
2
-
9
years
)
.
Dietary
assessment
,
plasma
cholesterol
,
triglycerides
,
lipoproteins
and
total
homocysteine
levels
were
obtained
.
There
were
no
significant
differences
in
blood
lipid
studies
and
total
homocysteine
levels
between
patients
and
controls
.
The
results
obtained
in
this
pilot
study
suggest
that
cardiovascular
disease
biomarkers
are
not
increased
in
patients
with
inborn
errors
of
protein
metabolism
.
This
may
be
explained
by
the
possible
protective
effect
of
a
mono-
and
polyunsaturated
fat
rich
Mediterranean
diet
.
Additional
studies
with
a
larger
number
of
patients
are
needed
to
confirm
this
finding
.
