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Possible high frequency of tetrahydrobiopterin deficiency in south Brazil.
[classical phenylketonuria]
We
report
our
experience
with
the
deficiency
of
6
-
pyruvoyltetrahydropterin
synthase
,
the
most
common
form
of
tetrahydrobiopterin
deficiency
.
We
investigated
5200
patients
suspected
of
having
some
inborn
error
of
metabolism
in
a
10
-
year
period
,
and
detected
30
cases
(
from
28
sibships
)
of
hyperphenylalaninaemias
,
HPA
.
From
these
,
4
sibships
(
5
patients
)
were
affected
by
deficiency
of
6
-
pyruvoyltetrahydropterin
synthase
.
All
of
them
were
ethnically
mixed
,
with
some
European
ancestry
detected
in
all
.
The
age
of
diagnosis
ranged
from
2
to
9
years
,
and
all
were
initially
referred
for
investigation
by
having
mental
retardation
and
seizures
.
All
of
them
showed
low
urinary
biopterin
levels
and
a
marked
elevation
of
neopterin
.
Although
we
detected
only
a
few
cases
of
HPA
(
30
)
,
5
cases
of
6
-
pyruvoyltetrahydropterin
account
for
almost
20
%
of
this
total
.
The
literature
,
however
,
reports
a
proportion
of
around
0
.
5
%
.
As
the
frequency
of
classical
phenylketonuria
in
our
region
is
similar
to
that
found
in
Caucasians
(
1
/
12
,
500
)
,
we
believe
that
the
frequency
of
this
disease
in
South
Brazil
may
be
higher
than
expected
(
of
the
order
of
1
/
400
,
000
)
.
We
speculate
that
this
finding
could
be
related
to
a
genetic
drift
(
or
founder
effect
)
.
Diseases
Validation
Diseases presenting
"seizures"
symptom
alexander disease
alpha-thalassemia
cadasil
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
legionellosis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated