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Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.
[classical phenylketonuria]
Neonatal
hyperphenylalaninaemia
caused
by
mutations
in
the
gene
encoding
phenylalanine
hydroxylase
(
PAH
)
represents
a
wide
spectrum
of
metabolic
phenotypes
,
ranging
from
classical
phenylketonuria
(
PKU
)
to
mild
hyperphenylalaninaemia
(
MHP
)
.
The
marked
interindividual
heterogeneity
is
due
to
the
expression
of
multiple
PAH
mutations
in
genetic
compounds
.
We
have
investigated
four
unusual
families
in
which
both
PKU
and
MHP
were
present
.
In
each
family
three
different
mutations
in
the
PAH
gene
were
identified
,
including
two
associated
with
PKU
and
one
associated
with
MHP
.
The
unexpected
outcome
of
discordant
phenotypes
within
the
families
described
is
explained
by
previously
unrecognized
parental
MHP
.
By
mutation
analysis
we
have
also
predicted
the
phenotypical
outcome
in
a
hyperphenylalaninaemic
infant
born
to
a
mother
who
before
pregnancy
had
been
diagnosed
as
having
MHP
.
Our
results
demonstrate
the
utility
of
nucleic
acid
analysis
in
follow-up
in
PKU
screening
programmes
.