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The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles.
[classical phenylketonuria]
We
present
the
spectrum
of
phenylalanine
hydroxylase
(
PAH
)
gene
mutations
upon
investigating
35
index
patients
identified
with
hyperphenylalaninemia
in
Armenia
.
One
patient
was
diagnosed
with
dihydropteridine
reductase
(
DHPR
)
deficiency
,
whereas
all
other
34
and
their
6
affected
siblings
presented
with
mild
or
classical
phenylketonuria
(
PKU
)
.
By
analyzing
all
13
exons
plus
exon-intron
boundaries
of
the
PAH
gene
,
we
identified
two
mutant
alleles
in
23
PKU
patients
,
three
mutations
in
1
,
only
one
mutation
in
5
,
and
no
mutation
in
5
PKU
patients
.
The
most
prevalent
mutation
was
the
well
defined
splicing
error
in
intron
10
,
c
.
1066
-
11
G
>
A
(
17
/
68
alleles
)
.
The
three
alterations
,
c
.
836
C
>
T
(
p
.
Pro
279
L
eu
)
in
exon
7
,
c
.
1129
T
>
G
(
p
.
Tyr
377
Asp
)
in
exon
11
,
and
c
.
1244
A
>
T
(
p
.
Asp
415
V
al
)
in
exon
12
,
have
not
been
reported
in
the
PAH
locus
database
(
http
:
/
/
www
.
pahdb
.
mcgill
.
ca
)
and
,
thus
,
might
be
specific
for
the
culturally
homogenous
Armenian
population
.
Diseases
Validation
Diseases presenting
"hyperphenylalaninemia"
symptom
classical phenylketonuria
homocystinuria without methylmalonic aciduria
phenylketonuria
This symptom has already been validated