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Haemostatic variables in phenylketonuric children under dietary treatment.
[classical phenylketonuria]
Classical
phenylketonuria
(
PKU
)
(
McKusick
261600
)
is
an
inborn
error
of
metabolism
treated
by
a
controlled
low
-phenylalanine
(
Phe
)
diet
started
as
soon
as
possible
in
the
first
days
of
life
.
Such
a
diet
can
be
achieved
with
vegetable
protein
and
can
be
considered
non-atherogenic
because
of
the
reduction
of
animal
products
.
Thirty
patients
with
PKU
were
classified
into
two
groups
according
to
their
annual
mean
Phe
levels
.
Their
daily
protein
intake
was
largely
replaced
by
PKU
2
Milupa
which
contains
a
mixture
of
amino
acids
.
The
product
has
no
phenylalanine
or
fat
of
any
kind
.
Thirty
-
eight
(
38
)
individuals
of
comparable
age
were
used
as
controls
.
Group
A
(
n
=
15
)
had
good
compliance
with
the
special
diet
(
Phe
mean
192
+
/
-
115
mumol
/
L
)
;
group
B
(
n
=
15
)
did
not
strictly
adhere
to
the
diet
(
Phe
mean
595
+
/
-
263
mumol
/
L
)
.
Certain
haemostatic
components
(
factors
I
,
VII
,
VIII
,
and
X
,
antithrombin
III
,
protein
C
,
and
plasminogen
)
and
lipid
variables
(
cholesterol
,
triglycerides
,
high
-density
lipoprotein
,
low
-density
lipoprotein
,
very
-
low
-density
lipoprotein
)
as
well
as
Phe
levels
were
estimated
.
All
the
haemostatic
factors
studied
were
found
within
the
normal
range
with
the
exception
of
a
significant
reduction
in
protein
C
in
both
groups
of
PKU
patients
.
Furthermore
,
a
statistically
significant
reduction
in
factor
VII
and
X
concentrations
was
observed
in
patients
on
strict
diet
.
Cholesterol
and
low
-density
lipoprotein
concentrations
were
significantly
lower
in
PKU
children
compared
to
normal
controls
.
It
is
suggested
that
even
though
the
special
diet
of
PKU
children
,
especially
in
group
A
,
is
rich
in
vegetables
,
the
reduced
fat
intake
might
have
impaired
the
absorption
of
vitamin
K
and
its
delivery
to
the
site
of
synthesis
of
vitamin
K-
dependent
haemostatic
factors
.
Diseases
Validation
Diseases presenting
"first days"
symptom
aromatase deficiency
classical phenylketonuria
familial hypocalciuric hypercalcemia
harlequin ichthyosis
kabuki syndrome
neonatal adrenoleukodystrophy
phenylketonuria
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