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Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.
[homocystinuria without methylmalonic aciduria]
Prenatal
diagnosis
for
combined
methylmalonic
aciduria
and
homocystinuria
was
performed
in
five
at
-risk
pregnancies
by
determination
of
methylmalonic
acid
(
MMA
)
and
total
homocysteine
(
Hcy
)
in
amniotic
fluid
supernatant
.
The
incorporation
rate
of
[
14
C
]
propionate
(
+
/
-
OHCbl
)
and
the
synthesis
of
cobalamin
derivatives
in
cultured
amniocytes
were
investigated
as
well
as
the
[
14
C
]
MTHF
incorporation
rate
in
intact
chorion
biopsy
.
Our
experience
showed
that
total
Hcy
and
MMA
were
clearly
elevated
in
amniotic
fluid
of
affected
fetuses
.
Both
the
study
of
[
14
C
]
propionate
incorporation
and
that
of
cobalamin
synthesis
in
cultured
amniocytes
are
useful
to
confirm
the
results
of
metabolite
determination
.
The
incorporation
of
[
14
C
]
MTHF
in
intact
chorion
biopsy
seems
not
to
be
a
reliable
diagnostic
method
.
Diseases
Validation
Diseases presenting
"amniotic fluid"
symptom
aniridia
canavan disease
congenital toxoplasmosis
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
oculocutaneous albinism
zellweger syndrome
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