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Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria.
[classical phenylketonuria]
Hyperhomocysteinemia
has
occasionally
been
reported
in
patients
with
phenylketonuria
(
PKU
)
and
B-
vitamin
deficiency
.
In
our
study
total
homocysteine
(
tHcy
)
and
B-
vitamins
were
measured
in
treated
PKU
patients
and
healthy
controls
.
In
the
patients
,
dietary
parameters
and
genetic
polymorphisms
affecting
the
Hcy
pathway
were
investigated
to
identify
parameters
modulating
tHcy
.
A
case
control
study
including
37
PKU
patients
and
63
healthy
controls
was
conducted
.
t-
Tests
for
independent
samples
were
used
to
test
between
groups
.
Multiple
regressions
with
tHcy
as
dependent
variable
were
calculated
.
Hardy-
Weinberg
expectations
were
tested
against
the
observed
distribution
of
genotypes
applying
the
Chi
-square
goodness-of-fit
method
.
THcy
concentrations
were
not
significantly
different
(
p
=
0
.
059
)
while
folate
and
cobalamin
(
Cbl
)
concentrations
were
significantly
higher
in
PKU
patients
compared
to
controls
.
However
,
29
.
7
%
of
patients
had
tHcy
concentrations
>
97
th
centile
.
THcy
did
not
vary
with
age
nor
correlate
with
folate
and
Cbl
concentrations
probably
due
to
high
saturatory
levels
.
The
presence
of
genetic
polymorphisms
had
no
impact
on
tHcy
.
In
conclusion
,
in
PKU
patients
treated
with
amino
acid
mixtures
enriched
with
B-
vitamins
,
tHcy
is
not
significantly
higher
than
in
healthy
controls
,
but
tHcy
concentrations
exceed
the
97
th
centile
in
about
one
third
of
patients
.
Even
higher
B-
vitamin
saturation
may
be
required
to
further
decrease
tHcy
concentrations
and
factors
generally
influencing
tHcy
such
as
betaine
are
to
be
investigated
in
PKU
patients
in
the
future
.
Diseases
Validation
Diseases presenting
"multiple regressions"
symptom
classical phenylketonuria
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