Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study.
[classical phenylketonuria]
To
determine
the
effects
of
large
neutral
amino
acid
(
LNAA
)
supplements
on
brain
and
plasma
phenylalanine
(
Phe
)
levels
and
other
metabolites
in
early
treated
subjects
with
classical
phenylketonuria
(
PKU
)
,
and
to
investigate
the
relationship
between
these
metabolites
and
neuropsychological
performance
.
This
was
a
prospective
,
double
blind
,
cross
over
study
consisting
of
four
two
-
week
phases
with
a
4
week
washout
period
.
Sixteen
subjects
(
7
males
)
,
with
classical
PKU
were
recruited
into
the
study
and
completed
all
4
phases
.
Each
phase
consisted
of
either
the
LNAA
supplement
or
placebo
,
and
either
the
patient
's
usual
medical
product
or
not
.
Subjects
were
instructed
to
follow
their
usual
Phe
restricted
diet
,
maintain
energy
intake
and
complete
a
3
-
day
food
record
during
each
phase
.
At
the
end
of
each
phase
,
brain
Phe
and
other
metabolites
were
measured
by
proton
magnetic
resonance
spectroscopy
(
MRS
)
,
and
plasma
amino
acids
quantified
.
A
detailed
neuropsychological
assessment
was
performed
on
the
same
day
as
the
MRS
and
plasma
collection
.
There
was
no
correlation
between
plasma
and
brain
Phe
,
but
few
of
the
plasma
Phe
readings
were
over
1200
micromol
/
L
.
Plasma
Phe
decreased
with
LNAA
supplementation
when
patients
were
not
taking
their
medical
formula
.
LNAA
supplementation
had
a
specific
impact
on
executive
functions
particularly
in
verbal
generativity
and
cognitive
flexibility
.
Measures
of
attention
were
better
on
medical
product
,
with
or
without
LNAA
supplements
.
LNAA
supplementation
was
associated
with
a
trend
to
a
lowering
of
plasma
Phe
levels
.
LNAA
supplementation
had
a
specific
impact
on
executive
functions
particularly
in
verbal
generativity
and
flexibility
.
For
individuals
already
complying
with
diet
and
PKU
medical
product
,
additional
supplementation
with
LNAA
is
of
limited
value
.
LNAA
supplementation
may
be
of
benefit
to
those
unable
to
comply
with
PKU
medical
product
by
reducing
plasma
Phe
,
perhaps
by
competing
with
Phe
at
the
level
of
transport
across
the
gut
.
Diseases
Validation
Diseases presenting
"detailed neuropsychological assessment"
symptom
classical phenylketonuria
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom