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Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?
[homocystinuria without methylmalonic aciduria]
We
report
on
two
siblings
,
a
girl
of
7
years
and
a
boy
of
2
years
,
who
presented
in
infancy
with
hypotonia
,
athetoid
movements
,
myopathy
and
severe
developmental
delay
.
The
progressive
clinical
course
was
characterized
by
ophthalmoplegia
,
pyramidal
tract
signs
,
loss
of
visual
contact
and
failure
to
thrive
.
The
older
sister
died
at
the
age
of
7
years
.
The
younger
brother
followed
an
almost
identical
clinical
course
.
MRI
of
the
brain
revealed
bilateral
hypodensities
and
atrophy
of
the
putamen
.
Neurophysiological
investigations
were
consistent
with
peripheral
neuropathy
.
Investigations
for
neurometabolic
disorders
in
urine
,
plasma
and
CSF
of
both
patients
revealed
a
consistent
increase
of
methylmalonic
acid
in
urine
,
plasma
and
CSF
as
well
as
borderline
low
free
GABA
in
CSF
.
Except
for
an
inconstant
elevation
of
lactate
in
the
boy
,
metabolic
acidosis
,
hypoglycaemia
,
episodic
ketoacidosis
,
or
hyperammonaemia
,
the
usual
concomitants
of
organoacidopathies
,
were
absent
in
both
children
.
Homocystinuria
was
excluded
.
Methylmalonic
aciduria
did
not
respond
to
antibiotic
treatment
,
vitamin
B
12
therapy
nor
dietary
protein
restriction
.
Incorporation
of
[
14
C
]
propionate
into
protein
in
cultured
fibroblasts
was
pathologically
but
inconsistently
decreased
.
Both
patients
'
cell
lines
showed
only
minimal
response
to
hydroxocobalamin
and
normal
methylmalonyl-
CoA
mutase
activity
.
Even
though
the
definitive
underlying
enzymatic
defect
in
this
sibship
remains
obscure
our
results
suggest
a
new
genetic
disorder
.
This
report
illustrates
that
hitherto
undescribed
metabolic
disorders
remain
to
be
elucidated
even
in
long
investigated
areas
of
intermediary
metabolism
such
as
methylmalonic
aciduria
.
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Diseases presenting
"or hyperammonaemia"
symptom
homocystinuria without methylmalonic aciduria
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