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Prevalence of classical phenylketonuria in mentally retarded individuals in Iran.
[classical phenylketonuria]
Using
Guthrie
Biological
Inhibition
Assay
,
4963
mentally
retarded
individuals
housed
in
31
cities
and
towns
across
the
country
were
screened
for
PKU
.
The
average
prevalence
of
classical
PKU
in
the
study
population
was
2
.
1
%
,
which
is
higher
than
that
reported
for
most
mentally
retarded
populations
in
other
countries
prior
to
the
implementation
of
a
nationwide
newborn
screening
programme
for
PKU
.
The
prevalence
of
PKU
in
1814
mentally
retarded
inmates
housed
in
shelters
in
Tehran
was
2
.
81
%
,
and
the
prevalence
of
the
disease
in
3149
inmates
sheltered
in
other
cities
and
towns
was
1
.
68
%
.
It
appears
that
most
of
the
difference
between
the
prevalence
of
PKU
in
these
two
populations
is
due
to
a
unique
PKU
referral
pattern
in
Iran
.
The
high
prevalence
of
PKU
in
the
mentally
retarded
population
in
Iran
could
be
indicative
of
a
high
incidence
of
the
disease
among
Iranian
neonates
.
This
in
turn
appears
to
be
positively
influenced
by
both
a
high
frequency
of
the
PKU
allele
and
a
high
rate
of
consanguinity
in
the
country
.
Our
finding
suggests
that
instead
of
limited
local
screening
programmes
in
the
country
,
a
nationwide
screening
programme
for
PKU
,
especially
if
coupled
with
screening
for
congenital
hypothyroidism
,
would
be
highly
cost-effective
and
warranted
.
Diseases
Validation
Diseases presenting
"high prevalence"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cutaneous mastocytosis
cystinuria
dracunculiasis
dystrophic epidermolysis bullosa
erdheim-chester disease
erythropoietic protoporphyria
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
legionellosis
lymphangioleiomyomatosis
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary hyperoxaluria type 1
pyomyositis
scrub typhus
sneddon syndrome
trochlear dysplasia
waldenström macroglobulinemia
wiskott-aldrich syndrome
zellweger syndrome
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