Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Phenylalanine hydroxylase deficiency: intelligence of patients after early dietary treatment.
[classical phenylketonuria]
Neonatal
screening
for
hyperphenylalaninemia
(
HPA
)
has
been
performed
in
Taiwan
for
more
than
20
years
.
In
this
paper
,
we
studied
21
cases
of
HPA
caused
by
phenylalanine
hydroxylase
(
PAH
)
deficiency
.
These
patients
were
detected
by
a
single
newborn
screening
center
over
ten
-
years
,
and
the
incidence
was
one
in
63
,
690
.
According
to
the
initial
plasma
phenylalanine
levels
,
four
of
the
21
patients
belonged
to
classical
phenylketonuria
(
PKU
)
,
seven
were
mild
PKU
,
and
ten
were
mild
HPA
.
They
commenced
diet
control
at
the
age
of
47
+
/
-
22
(
17
-
106
)
days
.
Fourteen
patients
completed
IQ
tests
,
three
of
the
14
patients
having
classical
PKU
,
five
having
mild
PKU
,
and
six
having
mild
HPA
.
Their
average
IQ
scores
were
within
normal
ranges
(
full-scale
IQ
98
+
/
-
14
,
verbal
IQ
92
+
/
-
8
,
and
performance
IQ
104
+
/
-
19
)
,
but
patients
with
classical
PKU
tended
to
have
lower
IQ
scores
than
other
patients
.
Since
classical
PKU
is
rare
in
Taiwan
,
further
studies
including
detailed
neuropsychological
tests
will
be
required
to
evaluate
the
effect
of
treatment
in
this
group
of
patients
.
Diseases
Validation
Diseases presenting
"single newborn screening center"
symptom
classical phenylketonuria
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom