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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 rate"
symptom
alpha-thalassemia
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cystinuria
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
esophageal carcinoma
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
krabbe disease
liposarcoma
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
thoracic outlet syndrome
trochlear dysplasia
x-linked adrenoleukodystrophy
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