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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
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated
