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Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
[homocystinuria without methylmalonic aciduria]
Methylmalonic
aciduria
and
homocystinuria
,
cblC
type
,
is
the
most
common
inborn
error
of
vitamin
B
(
12
)
(
cobalamin
)
metabolism
.
The
recent
cloning
of
the
disease
gene
,
MMACHC
,
has
permitted
genotype-phenotype
correlation
.
In
a
1
-
year
-old
girl
,
compound
heterozygous
c
.
271
dupA
and
c
.
616
C
>
T
mutations
in
MMACHC
were
identified
as
causing
an
early
onset
methylmalonic
aciduria
and
homocystinuria
,
cblC
type
,
which
was
complicated
by
sensorimotor
peripheral
demyelinating
neuropathy
.
Diseases
Validation
Diseases presenting
"early onset"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
coats disease
cohen syndrome
congenital diaphragmatic hernia
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
fabry disease
familial mediterranean fever
homocystinuria without methylmalonic aciduria
inclusion body myositis
kindler syndrome
krabbe disease
papillon-lefèvre syndrome
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
triple a syndrome
von hippel-lindau disease
werner syndrome
wolf-hirschhorn syndrome
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