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The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.
[classical phenylketonuria]
The
phenylalanine
hydroxylase
(
PAH
)
deficiency
trait
is
heterogeneous
with
a
continuum
of
metabolic
phenotypes
ranging
from
classical
phenylketonuria
(
PKU
)
to
mild
hyperphenylalaninaemia
(
MHP
)
.
More
than
200
mutations
in
the
PAH
gene
are
associated
with
PAH
deficiency
.
From
theoretical
considerations
or
in
vitro
expression
studies
each
mutation
has
a
particular
influence
on
enzyme
activity
,
which
explains
the
variation
in
dietary
tolerance
for
phenylalanine
(
Phe
)
.
This
paper
gives
a
summary
of
the
effect
of
each
type
of
mutation
on
PAH
activity
and
illustrates
how
the
combination
of
mutations
(
the
genotype
)
is
associated
with
the
Phe
tolerance
(
the
metabolic
phenotype
)
.
Mutations
within
a
population
generally
include
a
few
prevalent
mutations
and
a
high
number
of
rare
mutations
.
The
particular
distribution
of
mutations
implies
that
many
PAH
-
deficient
patients
carry
the
same
mutation
combination
,
enabling
the
establishment
of
genotype-phenotype
correlations
by
comparing
clinical
parameters
in
patients
with
identical
genotypes
.
Because
certain
mutations
always
cause
MHP
irrespective
of
the
mutation
on
the
second
allele
,
mutation
typing
of
hyperphenylalaninaemic
neonates
will
differentiate
between
PKU
and
MHP
.
In
addition
,
genotyping
will
provide
a
tool
for
precise
diagnosis
of
the
metabolic
phenotype
of
the
neonate
with
PKU
and
thereby
permit
earlier
implementation
of
dietary
therapy
better
tailored
to
each
individual
patient
.
Diseases
Validation
Diseases presenting
"a high number of rare mutations"
symptom
classical phenylketonuria
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