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[Classical phenylketonuria. Metabolism inborn errors].
[classical phenylketonuria]
The
authors
describe
pku
or
phenylketonuria
,
a
congenital
type
of
metabolic
alteration
which
forces
those
patients
who
suffer
it
to
follow
a
dietetic
treatment
for
their
entire
lives
.
The
authors
analyze
1
,
the
biochemical
alterations
which
are
produced
in
the
organism
and
which
cause
the
appearance
of
them
;
2
,
the
genetics
involved
;
3
,
the
clinical
manifestations
shown
by
those
who
suffer
from
pku
;
4
,
the
diagnosis
of
this
disease
;
5
,
the
number
of
cases
in
the
general
public
;
6
,
a
bit
more
extensive
section
dealing
with
the
nutritional
treatment
,
follow-up
and
control
of
this
disease
;
7
,
nursing
care
,
fundamentally
based
on
how
to
educate
and
counsel
patients
and
their
families
regarding
control
methods
and
problems
which
commonly
occur
in
dietetic
treatment
over
the
course
of
the
various
phases
in
one
's
life
;
and
8
,
the
conclusions
of
this
study
,
whose
origin
came
after
intensive
contact
with
the
Galician
Association
of
Phenylketonuria
and
a
study
of
the
epidemiological
and
nutritional
situation
of
sufferers
of
this
disease
in
Galicia
.
This
study
was
presented
at
the
Third
National
"
SENC
"
Congress
held
in
Las
Palmas
de
Gran
Canaria
.
Diseases
Validation
Diseases presenting
"type of metabolic alteration"
symptom
classical phenylketonuria
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