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Tetrahydrobiopterin and inherited hyperphenylalaninemias.
[classical phenylketonuria]
Tetrahydrobiopterin
deficiency
,
a
variant
of
hyperphenylalaninemia
,
may
be
caused
by
deficiency
of
one
of
the
following
enzymes
:
guanosine
triphosphate
cyclohydrolase
1
,
6
-
pyruvoyltetrahydropterin
synthase
,
dihydropteridin
reductase
and
pterin-
4
a-carbinolamine
dehydratase
.
The
first
two
enzymes
are
involved
in
the
biosynthesis
of
tetrahydrobiopterin
,
the
last
two
in
its
regeneration
.
Although
these
diseases
are
rare
,
early
detection
by
selective
screening
is
essential
for
the
treatment
and
outcome
.
Tetrahydrobiopterin
deficiencies
are
very
heterogenous
ranging
from
mild
forms
requiring
only
marginal
if
any
treatment
to
severe
forms
which
are
in
some
cases
very
difficult
to
treat
.
All
variants
of
tetrahydrobiopterin
deficiency
can
be
differentiated
from
the
classical
phenylketonuria
(
PKU
)
by
measurement
of
pterin
metabolites
in
patients
'
urine
,
tetrahydrobiopterin
loading
test
,
and
by
dihydropteridine
reductase
activity
in
erythrocytes
from
the
Guthrie
card
.
Diseases
Validation
Diseases presenting
"severe forms"
symptom
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
omenn syndrome
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
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