Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria.
[phenylketonuria]
Alkaptonuria
,
caused
by
a
deficiency
of
homogentisate
1
,
2
-
dioxygenase
,
results
in
the
accumulation
of
homogentisic
acid
(
2
,
5
-
dihydroxyphenylacetic
acid
,
HGA
)
in
the
urine
.
Alkaptonuria
is
suspected
when
the
urine
changes
color
after
it
is
left
to
stand
at
room
temperature
for
several
hours
to
days
;
oxidation
of
homogentisic
acid
to
benzoquinone
acetic
acid
underlies
this
color
change
,
which
is
accelerated
by
the
addition
of
alkali
.
In
an
attempt
to
develop
a
facile
screening
test
for
alkaptonuria
,
we
added
alkali
to
urine
samples
obtained
from
patients
with
alkaptonuria
and
measured
the
absorbance
spectra
in
the
visible
light
region
.
We
evaluated
the
characteristics
of
the
absorption
spectra
of
urine
samples
obtained
from
patients
with
alkaptonuria
(
n
=
2
)
and
compared
them
with
those
of
urine
specimens
obtained
from
healthy
volunteers
(
n
=
5
)
and
patients
with
phenylketonuria
(
n
=
3
)
,
and
also
of
synthetic
homogentisic
acid
solution
after
alkalization
.
Alkalization
of
the
urine
samples
and
HGA
solution
was
carried
out
by
the
addition
of
NaOH
,
KOH
or
NH
4
OH
.
The
sample
solutions
were
incubated
at
room
temperature
for
1
min
,
followed
by
measurement
of
the
absorption
spectra
.
Addition
of
alkali
to
alkaptonuric
urine
yielded
characteristic
absorption
peaks
at
406
nm
and
430
nm
;
an
identical
result
was
obtained
from
HGA
solution
after
alkalization
.
The
absorbance
values
at
both
406
nm
and
430
nm
increased
in
a
time-dependent
manner
.
In
addition
,
the
absorbance
values
at
these
peaks
were
greater
in
strongly
alkaline
samples
(
NaOH-
KOH-added
)
as
compared
with
those
in
weakly
alkaline
samples
(
NH
4
OH
-added
)
.
In
addition
,
the
peaks
disappeared
following
the
addition
of
ascorbic
acid
to
the
samples
.
We
found
two
characteristic
peaks
at
406
nm
and
430
nm
in
both
alkaptonuric
urine
and
HGA
solution
after
alkalization
.
This
new
quick
and
easy
method
may
pave
the
way
for
the
development
of
an
easy
method
for
the
diagnosis
of
alkaptonuria
.
Diseases
Validation
Diseases presenting
"deficiency of homogentisate"
symptom
phenylketonuria
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom