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Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency.
[classical phenylketonuria]
Phenylketonuria
is
an
autosomal
recessive
inborn
error
of
metabolism
resulting
from
phenylalanine
hydroxylase
deficiency
.
Genetic
basis
of
phenylalanine
hydroxylase
deficiency
has
been
reported
in
various
European
and
Asian
countries
with
few
reports
available
in
Arab
populations
of
the
Mediterranean
region
.
This
is
the
first
pilot
study
describing
phenotype
and
genotype
of
23
Lebanese
patients
with
phenylketonuria
.
48
%
of
the
patients
presented
mainly
with
neurological
signs
at
a
mean
age
of
2
years
9
months
,
as
newborn
screening
is
not
yet
a
nationwide
policy
.
56
.
5
%
of
the
patients
had
classical
phenylketonuria
.
Thirteen
different
mutations
were
identified
:
splice
site
52
%
,
frameshift
31
%
,
and
missense
17
%
with
no
nonsense
mutations
.
IVS
10
-
11
G
>
A
was
found
mainly
in
Christians
at
high
relative
frequency
whereas
Muslims
carried
the
G
352
fs
and
R
261
Q
mutations
.
A
rare
splice
mutation
IVS
7
+
1
G
>
T
,
not
described
before
,
was
identified
in
the
homozygous
state
in
one
family
with
moderate
phenylketonuria
phenotype
.
Genotype-phenotype
correlation
using
Guldberg
arbitrary
value
method
showed
high
consistency
between
predicted
and
observed
phenotypes
.
Calculated
homozygosity
rate
was
0
.
07
indicating
the
genetic
heterogeneity
in
our
patients
.
Our
findings
underline
the
admixture
of
different
ethnicities
and
religions
in
Lebanon
that
might
help
tracing
back
the
PAH
gene
flux
history
across
the
Mediterranean
region
.
Diseases
Validation
Diseases presenting
"the genetic heterogeneity in our patients"
symptom
classical phenylketonuria
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