Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Our Team
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees.
[classical phenylketonuria]
Classical
phenylketonuria
(
PKU
)
and
mild
hyperphenylalaninemia
(
MHP
)
are
two
phenotypes
of
phenylalanine
hydroxylase
(
PAH
)
deficiency
with
different
degrees
of
severity
.
We
have
analyzed
three
families
in
which
classical
PKU
,
MHP
and
a
normal
phenotype
occurred
within
each
family
due
to
the
different
combinations
of
three
mutations
segregating
within
the
family
.
Indeed
,
sequence
PAH
analysis
revealed
three
different
alleles
segregating
in
each
family
.
This
report
suggests
that
when
discordant
phenotypes
occur
in
a
family
,
complete
analysis
of
the
PAH
gene
may
be
performed
in
order
to
support
the
diagnosis
and
assist
in
accurate
genetic
counseling
and
patient
management
.
We
further
support
the
marked
heterogeneity
of
hyperphenylalaninemia
primarily
due
to
allelic
heterogeneity
at
the
PAH
locus
.
