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Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.
[cystinuria]
Cystinuria
is
an
inherited
renal
and
intestinal
disease
characterized
by
defective
amino
acids
reabsorption
and
cystine
urolithiasis
.
It
is
unusually
associated
with
neurologic
symptoms
.
Mutations
in
two
genes
,
SLC
3
A
1
and
SLC
7
A
9
,
have
been
identified
in
cystinuric
patients
.
This
report
presents
a
13
-
yr
-old
boy
with
cystinuria
who
manifested
difficulty
in
walking
,
ataxia
,
and
mental
retardation
.
Somatosensory
evoked
potential
of
posterior
tibial
nerve
stimulation
showed
the
central
conduction
dysfunction
through
the
posterior
column
of
spinal
cord
.
He
was
diagnosed
non-
type
I
cystinuria
by
urinary
amino
acid
analysis
and
oral
cystine
loading
test
.
We
screened
him
and
his
family
for
gene
mutation
by
direct
sequencing
of
SLC
3
A
1
and
SLC
7
A
9
genes
.
In
this
patient
,
we
identified
new
missence
mutation
G
173
R
in
SLC
7
A
9
gene
.
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