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Urinary organic acids in peroxisomal disorders: a simple screening method.
[neonatal adrenoleukodystrophy]
Using
GC
-
MS
,
we
studied
urinary
organic
acids
in
20
Japanese
patients
with
peroxisomal
disorders
,
including
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
,
and
single
deficiency
of
peroxisomal
beta
-oxidation
enzymes
.
Non-ketotic
dicarboxylic
aciduria
with
elevated
sebacate
/
adipate
molar
ratio
was
observed
in
19
of
the
20
patients
.
Elevation
of
2
-
hydroxysebacate
and
epoxydicarboxylic
acids
were
seen
in
13
and
18
,
respectively
.
Tyrosyluria
was
remarkable
in
all
patients
.
In
two
ZS
patients
,
we
tracked
the
time
course
from
birth
to
infancy
,
and
all
the
above
stated
findings
were
detected
,
except
for
one
sample
.
Urinary
organic
acid
analysis
is
indeed
useful
for
screening
subjects
with
peroxisomal
disorders
.
Diseases
Validation
Diseases presenting
"dicarboxylic aciduria"
symptom
neonatal adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated