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Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature.
[classical phenylketonuria]
Treatment
of
phenylketonuria
(
PKU
,
OMIM
261600
)
means
a
diet
restricted
in
natural
protein
and
supplemented
with
phenylalanine
(
Phe
)
-
free
L-
amino
acid
mixtures
.
Growth
impairment
has
been
described
even
in
patients
with
a
total
protein
intake
at
or
above
the
recommended
dietary
allowance
(
RDA
)
.
In
the
present
study
,
growth
and
body
composition
(
fat-free
mass
(
FFM
)
and
fat
)
were
recorded
over
12
months
in
34
treated
PKU
patients
(
mean
age
8
.
7
years
at
baseline
)
.
Measurements
were
compared
with
those
of
healthy
peers
and
with
general
population
standard
(
Z-
)
scores
calculated
using
the
LMS
method
.
In
28
PKU
patients
,
data
on
birth
weight
and
birth
length
were
available
and
related
to
measurements
at
baseline
of
the
study
.
Mean
total
protein
intake
in
PKU
patients
was
124
%
(
range
77
-
193
%
)
of
the
RDA
(
DACH
2000
)
.
No
significant
differences
in
growth
and
body
composition
were
present
between
PKU
patients
and
healthy
populations
either
at
birth
or
during
the
study
period
.
The
significant
correlation
of
FFM
(
representing
muscle
mass
)
with
intake
of
natural
protein--rather
than
total
protein--indicates
that
the
enhancement
of
tolerance
to
natural
protein
may
be
of
value
in
PKU
patients
.
Diseases
Validation
Diseases presenting
"birth weight"
symptom
classical phenylketonuria
congenital diaphragmatic hernia
congenital toxoplasmosis
cutaneous mastocytosis
dracunculiasis
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
lamellar ichthyosis
phenylketonuria
wolf-hirschhorn syndrome
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