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Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency.
[homocystinuria without methylmalonic aciduria]
Two
adult
brothers
,
one
documented
to
have
methylmalonic
acidemia
with
homocystinuria
,
or
cobalamin
C
deficiency
,
after
autopsy
,
displayed
severe
but
divergent
neurological
presentations
.
One
exhibited
a
myelopathy
and
the
other
chronic
endocrine
problems
(
Schmidt
's
syndrome
)
followed
by
a
neuropsychiatric
and
dementing
disorder
owing
to
cerebral
perivascular
demyelination
.
The
recognition
of
cobalamin
C
deficiency
has
practical
implications
because
it
is
one
of
the
few
inherited
diseases
of
central
white
matter
that
is
treatable
.
Diseases
Validation
Diseases presenting
"homocystinuria"
symptom
adrenomyeloneuropathy
cohen syndrome
homocystinuria without methylmalonic aciduria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
This symptom has already been validated