Rare Diseases Symptoms Automatic Extraction
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Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.
[homocystinuria without methylmalonic aciduria]
A
symptom-free
woman
gave
birth
to
a
girl
with
a
low
carnitine
level
on
newborn
screening
.
The
baby
was
unaffected
,
but
the
mother
had
biochemical
abnormalities
and
mutations
characteristic
of
the
cblC
defect
of
vitamin
B
(
12
)
metabolism
(
late-onset
form
)
.
This
patient
with
cblC
was
detected
through
her
infant
's
newborn
screening
.
