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Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation.
[classical phenylketonuria]
Classical
phenylketonuria
(
PKU
)
and
mild
hyperphenylalaninaemia
(
MHP
)
are
two
ends
of
the
broad
diagnostic
spectrum
in
phenylalanine
hydroxylase
(
PAH
)
deficiency
.
We
have
analysed
a
family
in
which
classical
PKU
,
MHP
and
a
normal
phenotype
occurred
in
family
members
with
different
mutations
.
Sequence
analysis
revealed
three
mutations
segregating
in
the
family
.
The
individual
with
classical
PKU
had
two
previously
reported
deleterious
mutations
.
A
third
novel
mutation
was
identified
in
the
other
two
individuals
.
This
report
demonstrates
that
when
discordant
phenotypes
occur
in
a
family
,
without
protein
loading
or
phenylalanine
tolerance
test
,
complete
analysis
of
the
PAH
gene
may
be
performed
in
order
to
support
the
diagnosis
and
assist
in
accurate
genetic
counselling
and
patient
management
.