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Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.
[classical phenylketonuria]
We
are
reporting
a
retrospective
review
of
blood
phenylalanine
(
Phe
)
concentrations
in
33
patients
with
classical
phenylketonuria
(
PKU
)
born
between
1991
and
2009
and
continuously
followed
up
in
our
clinic
in
2009
.
As
an
indicator
of
blood
Phe
control
,
we
analysed
the
percentage
of
blood
Phe
concentrations
within
and
outside
of
the
treatment
range
for
each
individual
for
treatment
periods
between
1
month
and
12
months
,
1
to
6
years
,
and
6
to
12
years
of
age
.
Despite
early
diagnosis
and
medical
management
in
a
centralized
care
model
,
only
approximately
40
%
of
patients
had
60
%
and
more
of
their
blood
Phe
concentrations
within
the
treatment
range
during
their
lifetime
treatment
periods
.
There
was
no
statistical
difference
for
the
percentage
of
blood
Phe
concentrations
within
the
treatment
range
,
the
mean
Phe
concentrations
or
the
SD
between
the
various
treatment
periods
.
We
found
a
correlation
between
Phe
tolerance
and
percentage
of
blood
Phe
concentrations
within
the
treatment
range
.
Patients
born
between
1991
and
1999
had
poorer
control
than
those
born
later
.
A
frequent
quality
assurance
audit
is
recommended
to
assess
treatment
outcomes
in
clinics
providing
care
to
children
with
PKU
.
Diseases
Validation
Diseases presenting
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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