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Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
[homocystinuria without methylmalonic aciduria]
Combined
methylmalonic
aciduria
and
homocystinuria
,
cobalamin
C
(
cblC
)
type
,
is
an
inherited
disorder
of
vitamin
B
(
12
)
metabolism
caused
by
mutations
in
MMACHC
.
CblC
typically
presents
in
the
neonatal
period
with
neurological
deterioration
,
failure
to
thrive
,
cytopenias
,
and
multisystem
pathology
including
renal
and
hepatic
dysfunction
.
Rarely
,
affected
individuals
present
in
adulthood
with
gait
ataxia
and
cognitive
decline
.
Treatment
with
hydroxocobalamin
may
ameliorate
the
clinical
features
of
early
-onset
disease
and
prevent
clinical
late-onset
disease
.
Propionic
acidemia
(
PA
)
,
methylmalonic
acidemia
(
MMA
)
,
and
various
disorders
of
cobalamin
metabolism
are
characterized
by
elevated
propionylcarnitine
(
C
3
)
on
newborn
screening
(
NBS
)
.
Distinctions
can
be
made
between
these
disorders
with
secondary
analyte
testing
.
Elevated
methionine
is
already
routinely
used
as
a
NBS
marker
for
cystathionine
beta
-synthase
deficiency
.
We
propose
that
low
methionine
may
be
useful
as
a
secondary
analyte
for
specific
detection
of
cbl
disorders
among
a
larger
pool
of
infants
with
elevated
C
3
on
NBS
.
Retrospective
analysis
of
dried
blood
spot
(
DBS
)
data
in
patients
with
molecularly
confirmed
cblC
disease
.
Nine
out
of
ten
patients
with
confirmed
cblC
born
in
New
York
between
2005
and
2008
had
methionine
below
13
.
4
mumol
/
L
on
NBS
.
Elevated
C
3
,
elevated
C
3
:
C
2
ratio
,
and
low
methionine
were
incorporated
into
a
simple
screening
algorithm
that
can
be
used
to
improve
the
specificity
of
newborn
screening
programs
and
provide
a
specific
and
novel
method
of
distinguishing
cblC
from
other
disorders
of
propionate
metabolism
prior
to
recall
for
confirmatory
testing
.
It
is
anticipated
that
this
algorithm
will
aid
in
early
and
specific
detection
of
cobalamin
C
,
D
,
and
F
diseases
,
with
no
additional
expense
to
NBS
laboratories
screening
for
organic
acidemias
and
classical
homocystinuria
.
Diseases
Validation
Diseases presenting
"neonatal period"
symptom
alexander disease
alpha-thalassemia
benign recurrent intrahepatic cholestasis
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cutaneous mastocytosis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
pyruvate dehydrogenase deficiency
zellweger syndrome
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