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Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders.
[phenylketonuria]
Numerous
congenital
-genetic
inborn
errors
of
metabolism
(
CIEMs
)
have
been
identified
and
characterized
in
detail
within
recent
decades
,
with
promising
therapeutic
options
.
Neuroimaging
is
becoming
increasingly
utilized
in
earlier
stages
of
CIEMs
,
and
even
in
asymptomatic
relatives
of
patients
with
a
CIEM
,
so
as
to
monitor
disease
progress
and
treatment
response
.
This
review
attempts
to
summarize
in
a
concise
fashion
the
neuroimaging
findings
of
various
CIEMs
that
may
present
in
adulthood
,
as
well
as
those
that
may
persist
into
adulthood
,
whether
because
of
beneficial
therapy
or
a
delay
in
diagnosis
.
Notably
,
some
of
these
disorders
have
neuroimaging
findings
that
differ
from
their
classic
infantile
or
early
childhood
forms
,
whereas
others
are
identical
to
their
early
pediatric
forms
.
The
focus
of
this
review
is
their
appearance
on
routine
magnetic
resonance
imaging
sequences
,
with
some
basic
attention
to
the
findings
of
such
CIEMs
on
specialized
neuroimaging
,
based
on
recent
or
preliminary
research
.
The
general
classes
of
disorders
covered
in
this
complex
review
are
:
peroxisomal
disorders
(
adrenoleukodystrophy
)
,
lysosomal
storage
disorders
(
including
metachromatic
leukodystrophy
,
Krabbe
or
globoid
cell
leukodystrophy
,
Fabry
,
Niemann-
Pick
,
GM
1
,
GM
2
,
Gaucher
,
mucopolysaccharidoses
,
and
Salla
diseases
)
,
mitochondrial
disorders
(
including
mitochondrial
encephalomyopathy
with
lactic
acidosis
and
strokelike
episodes
,
myoclonic
epilepsy
with
ragged
red
fibers
,
Leigh
disease
,
and
Kearns-
Sayre
syndrome
)
,
urea
cycle
disorders
,
several
organic
acidemias
(
including
phenylketonuria
,
maple
syrup
urine
disease
,
3
-
hydroxy-
3
-
methylglutaryl
colyase
deficiency
,
glutaric
acidurias
,
methylmalonic
academia
,
proprionic
academia
,
3
-
methylglucatonic
aciduria
,
and
2
-
hydroxyglutaric
acidurias
)
,
cytoskeletal
or
transporter
molecule
defects
(
including
Alexander
or
fibrinoid
leukodystrophy
,
proteolipid
protein-
1
defect
or
Pelizaeus
Merzbacher
,
Wilson
,
and
Huntington
diseases
)
,
and
several
neurodegenerative
disorders
of
brain
iron
accumulation
.
Additionally
,
an
arbitrary
"
miscellaneous
"
category
of
5
recognizable
disorders
that
may
present
in
or
persist
into
adulthood
is
summarized
,
which
include
megalencephalic
leukoencephalopathy
with
subcortical
cysts
(
megancephalic
leukoencephalopathy
with
subcortical
cysts
or
van
der
Knaap
disease
)
,
polymerase-
III
gene
defect
(
"
4
H
syndrome
"
)
,
childhood
ataxia
with
central
nervous
system
hypomyelination
(
"
vanishing
white
matter
disease
"
)
,
striopallidodentate
calcinosis
(
"
Fahr
disease
"
)
,
and
Cockayne
syndrome
.
Diseases
Validation
Diseases presenting
"epilepsy"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
pendred syndrome
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated