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Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.
[classical phenylketonuria]
Phenylalanine
hydroxylase
(
PAH
)
deficiency
is
a
heterogeneous
disease
at
the
phenotype
level
.
The
spectrum
of
clinical
and
metabolic
phenotypes
spans
from
the
potential
pathogenic
disease
classical
phenylketonuria
(
PKU
)
to
the
benign
condition
non-
PKU
hyperphenylalaninemia
(
non-
PKU
HPA
)
.
This
review
provides
an
introduction
to
the
clinical
variants
of
PAH
deficiency
,
and
summarizes
our
attempts
to
define
the
disease
at
the
molecular
level
and
to
relate
mutation
genotype
to
clinical
outcome
.
Complete
genotype
determination
in
a
large
number
of
patients
with
PAH
-
deficient
hyperphenylalaninemia
demonstrates
that
clinical
heterogeneity
can
be
explained
by
a
multiplicity
of
mutations
in
the
PAH
gene
.
Some
combinations
of
mutations
are
associated
with
phenylalanine
levels
fluctuating
around
the
border
between
PKU
and
non-
PKU
HPA
.
However
,
certain
mutations
seem
always
to
cause
non-
PKU
HPA
irrespective
of
the
mutation
on
the
second
allele
and
can
,
therefore
,
unambiguously
be
designated
as
being
associated
with
the
non-
PKU
HPA
phenotype
.
Our
results
suggest
that
mutation
analysis
in
newborns
presenting
with
hyperphenylalaninemia
can
be
used
for
rapid
and
highly
efficient
differential
diagnosis
of
PAH
deficiency
,
and
for
predicting
the
severity
of
the
disease
.
These
possibilities
may
facilitate
and
optimize
the
management
of
hyperphenylalaninemia
and
thereby
improve
prognosis
.
Diseases
Validation
Diseases presenting
"and summarizes our attempts to define the disease at the molecular level and to relate mutation genotype to clinical outcome"
symptom
classical phenylketonuria
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