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A series of pregnancies in women with inherited metabolic disease.
[homocystinuria without methylmalonic aciduria]
In
this
case
series
we
report
12
pregnancies
,
in
women
treated
at
four
centres
,
illustrating
some
of
the
issues
that
may
be
encountered
during
pregnancy
by
women
with
inherited
metabolic
disease
.
We
discuss
how
specific
pregnancy
,
labour
and
delivery
issues
for
mothers
with
methylmalonic
acidemia
,
homocystinuria
,
propionic
acidemia
,
glutaric
acidemia
type
1
,
ornithine
transcarbamylase
(
OTC
)
deficiency
and
3
-
hydroxy-
3
-
methylglutaric
(
HMG
)
-
CoA
lyase
deficiency
were
managed
and
the
outcome
for
the
mother
and
child
in
each
case
.
Eight
of
the
12
pregnancies
resulted
in
the
successful
delivery
of
a
liveborn
infant
.
Several
women
experienced
decompensation
of
their
condition
during
pregnancy
or
the
post-partum
period
.
There
was
one
maternal
death
in
a
women
with
3
-
hydroxy-
3
-
methylglutaric
(
HMG
)
-
CoA
lyase
deficiency
.
Pre-pregnancy
counselling
and
co
-management
of
high
risk
medical
patients
by
obstetricians
and
specialist
physicians
with
an
understanding
of
the
relationship
between
pregnancy
and
inherited
metabolic
disease
is
essential
.
Diseases
Validation
Diseases presenting
"high risk"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
aniridia
canavan disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
krabbe disease
legionellosis
liposarcoma
locked-in syndrome
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
waldenström macroglobulinemia
werner syndrome
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