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Successful neurological outcome of a child with classical phenylketonuria and acute lymphoblastic leukemia: a 7-year follow-up.
[classical phenylketonuria]
We
report
on
the
medical
management
and
outcome
of
a
child
with
classical
phenylketonuria
(
PKU
)
who
developed
acute
lymphoblastic
leukemia
(
ALL
)
.
Chemotherapy
began
at
24
months
of
age
.
Initial
problems
associated
with
treatment
lead
to
remarkable
releases
of
phenylalanine
,
a
neurotoxin
.
Causes
included
increased
catabolism
secondary
to
tumor
lysis
and
chemotherapy
,
as
well
as
infection
,
intermittent
fasting
and
anorexia
.
Medical
management
involved
daily
monitoring
of
Phe
levels
and
major
changes
in
the
amount
of
medical
formula
and
the
intake
of
protein
containing
foods
in
the
diet
.
The
child
is
currently
in
remission
from
ALL
and
has
a
normal
neurodevelopmental
outcome
7
years
after
the
ALL
diagnosis
.
Diseases
Validation
Diseases presenting
"anorexia"
symptom
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
classical phenylketonuria
erdheim-chester disease
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
hydrocephalus with stenosis of the aqueduct of sylvius
neonatal adrenoleukodystrophy
systemic capillary leak syndrome
triple a syndrome
This symptom has already been validated
