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Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant.
[classical phenylketonuria]
Few
cases
of
premature
infants
with
classical
phenylketonuria
(
PKU
)
have
been
reported
.
Treatment
of
these
patients
is
challenging
due
to
the
lack
of
a
phenylalanine
(
Phe
)
-
free
amino
acid
(
AA
)
solution
for
parenteral
nutrition
.
A
boy
born
at
27
weeks
of
gestation
with
a
weight
of
1000
g
was
diagnosed
with
classical
PKU
on
day
7
because
of
highly
elevated
Phe
level
at
newborn
screening
(
2800
µmol
/
L
)
.
Phe
intake
was
suspended
for
5
days
and
during
this
time
intravenous
glucose
and
lipids
as
well
as
small
amounts
of
Phe-free
formula
through
nasogastric
tube
were
given
.
Because
of
insufficient
weight
gain
attributable
to
deficiency
of
essential
AA
,
a
Phe-reduced
,
BCAA-enriched
parenteral
nutrition
was
added
to
satisfy
AA
requirements
without
overloading
in
Phe
.
Under
this
regimen
,
the
boy
started
to
gain
weight
,
Phe
plasma
levels
progressively
reduced
and
normalized
on
day
19
.
At
the
age
of
40
months
,
the
patient
shows
normal
growth
parameters
(
height
25
th
percentile
,
weight
25
-
50
(
th
)
percentile
,
head
circumference
50
(
th
)
percentile
)
with
a
normal
result
for
formally
tested
psychomotor
development
(
WPPSI-
III
)
.
The
good
outcome
of
the
patient
in
spite
of
over
2
weeks
of
extremely
high
Phe
concentrations
suggests
that
the
premature
brain
may
still
have
enough
plasticity
to
recover
.
Lacking
a
Phe-free
intravenous
AA
solution
,
successful
management
of
premature
infants
with
PKU
depends
on
the
child
's
tolerance
of
enteral
nutrition
.
Although
the
coincidence
of
PKU
and
prematurity
is
rare
,
there
is
strong
need
for
the
development
of
an
appropriate
Phe-free
amino
acid
solution
for
parenteral
nutrition
especially
in
case
of
gastro-
intestinal
complications
of
prematurity
.
Diseases
Validation
Diseases presenting
"prematurity"
symptom
benign recurrent intrahepatic cholestasis
classical phenylketonuria
homocystinuria without methylmalonic aciduria
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