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Mutation analysis in hyperphenylalaninemia patients from South Italy.
[classical phenylketonuria]
Mutations
in
the
gene
encoding
phenylalanine
hydroxylase
(
PAH
,
EC
1
.
14
.
16
.
1
)
are
associated
with
various
degrees
of
hyperphenylalaninemia
(
HPA
)
,
including
classical
phenylketonuria
(
PKU
)
.
The
aim
of
the
study
was
to
determine
the
mutations
responsible
for
mild
forms
of
HPA
and
to
relate
different
clinical
phenotypes
of
HPA
patients
to
their
PAH
genotypes
in
order
to
better
predict
the
clinical
phenotype
and
implement
optimal
dietary
therapy
and
prognosis
in
newborns
with
the
disease
.
P
henylalanine
hydroxylase
(
PAH
)
gene
mutations
have
been
analyzed
by
direct
DNA
sequencing
in
30
HPA
patients
(
Phe
levels
ranging
from
2
to
6
mg
/
dL
)
from
Southern
Italy
who
were
identified
in
a
neonatal
screening
program
and
a
genotype-phenotype
correlation
was
performed
.
PAH
gene
mutation
was
identified
in
39
out
of
60
alleles
with
a
mutation
detection
rate
of
65
%
.
Eighteen
mutations
,
2
undescribed
,
were
observed
(
13
missense
mutations
,
1
deletion
,
4
splice
site
mutations
)
.
Using
the
"
in
vitro
"
predicted
residual
activity
,
a
good
genotype-phenotype
correlation
was
obtained
also
in
a
new
mild
HPA
case
,
a
PAH
compound
heterozygote
,
previously
undetected
.
A
marked
genetic
heterogeneity
was
found
in
HPA
patients
from
Southern
Italy
and
a
good
genotype-phenotype
correlation
was
obtained
.
Identification
of
PAH
gene
mutations
responsible
for
PAH
deficiency
will
therefore
be
useful
in
the
prediction
of
biochemical
and
clinical
phenotypes
in
HPA
patients
.