Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy.
[adrenomyeloneuropathy]
A
combined
genotype
of
polymorphisms
of
methionine
metabolism
has
been
associated
with
CNS
demyelination
in
methotrexate-treated
patients
.
Within
a
sample
of
86
patients
with
X-
linked
adrenoleukodystrophy
,
this
genotype
was
overrepresented
in
a
subgroup
of
15
patients
with
adrenomyeloneuropathy
(
AMN
)
with
CNS
demyelination
(
adrenoleukomyeloneuropathy
)
in
comparison
to
49
AMN
patients
without
CNS
demyelination
(
"
pure
"
AMN
;
p
=
0
.
002
)
,
suggesting
that
methionine
metabolism
might
contribute
to
the
phenotypic
variability
in
adrenoleukodystrophy
.
Diseases
Validation
Diseases presenting
"cns demyelination"
symptom
adrenomyeloneuropathy
krabbe disease
This symptom has already been validated
