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Progressive neuropsychiatric manifestations of phenylketonuria in adulthood.
[phenylketonuria]
Neuropsychiatric
signs
and
MRI
abnormalities
can
occur
in
patients
with
phenylketonuria
in
adulthood
.
We
describe
clinical
and
radiological
features
of
phenylketonuric
patients
and
we
discuss
the
advantage
of
continuing
diet
in
adulthood
.
We
report
late
onset
neuropsychiatric
symptoms
of
four
phenylketonuric
patients
(
33
-
45
years
)
diagnosed
in
infancy
and
report
the
case
of
a
patient
(
33
years
)
diagnosed
with
phenylketonuria
because
of
late
onset
neurological
signs
.
We
describe
clinical
and
radiological
features
of
these
5
patients
,
and
their
evolution
under
diet
and
propose
a
review
of
the
literature
.
The
main
neurological
abnormalities
in
phenylketonuric
patients
diagnosed
in
infancy
are
:
brisk
reflexes
,
spastic
paraparesis
,
psychiatric
signs
that
appear
10
.
5
years
after
the
diet
arrest
.
A
leukoencephalopathy
was
present
in
93
%
of
cases
and
91
.
7
%
improve
clinically
after
poor
phenylalanine
diet
reintroduction
.
In
4
patients
,
neurological
abnormalities
(
spastic
paraparesis
,
dementia
,
Parkinsonism
)
led
to
the
late
diagnosis
.
Two
of
them
had
a
leukoencephalopathy
on
brain
MRI
.
Patients
had
high
levels
of
phenylalanine
(
above
1500
μmol
/
L
)
when
neuropsychiatric
signs
occurred
.
Improvement
after
diet
suggests
that
hyperphenylalaninemia
has
a
direct
toxic
effect
on
the
brain
.
The
long
-term
follow-up
of
phenylketonuric
patients
is
mandatory
to
depict
and
treat
neurological
complications
in
time
.
Diet
reintroduction
is
efficacious
in
most
cases
.
Diseases
Validation
Diseases presenting
"high levels"
symptom
22q11.2 deletion syndrome
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
cadasil
canavan disease
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
liposarcoma
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
scrub typhus
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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