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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
.
Diseases
Validation
Diseases presenting
"peripheral neuropathy"
symptom
adrenomyeloneuropathy
esophageal squamous cell carcinoma
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kallmann syndrome
krabbe disease
neuralgic amyotrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
waldenström macroglobulinemia
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated