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Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.
[classical phenylketonuria]
Hyperphenylalaninemia
due
to
a
deficiency
of
hepatic
phenylalanine
hydroxylase
(
PAH
)
is
the
most
common
inborn
error
of
amino
acid
metabolism
.
Clinically
,
the
disorder
is
highly
heterogeneous
,
spanning
from
nonphenylketonuria
hyperphenylalaninemia
to
classical
phenylketonuria
.
Only
little
is
known
about
the
molecular
defects
underlying
hyperphenylalaninemia
in
Southern
Europe
.
In
this
study
,
we
conducted
a
systematic
analysis
of
53
patients
from
the
Sicilian
population
.
Each
patient
included
in
the
study
had
persistently
elevated
blood
levels
of
phenylalanine
and
met
the
differential
criteria
for
PAH
deficiency
.
Genomic
DNA
was
analysed
by
scanning
all
PAH
-coding
exons
for
mutations
by
PCR
in
combination
with
denaturing
gradient
gel
electrophoresis
(
DGGE
)
.
52
patients
were
completely
genotyped
.
A
spectrum
of
40
different
mutations
was
established
including
17
novel
PAH
mutations
.
Our
results
explain
the
clinical
heterogeneity
of
hyperphenylalaninemia
in
Southern
Europe
,
and
form
the
basis
for
the
establishment
of
phenotype-genotype
correlations
in
Sicily
and
surrounding
countries
.
Diseases
Validation
Diseases presenting
"hyperphenylalaninemia"
symptom
classical phenylketonuria
homocystinuria without methylmalonic aciduria
phenylketonuria
This symptom has already been validated