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Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
[homocystinuria without methylmalonic aciduria]
Methylmalonic
aciduria
and
homocystinuria
,
cblC
type
(
OMIM
277400
)
,
is
the
most
common
inborn
error
of
vitamin
B
(
12
)
(
cobalamin
)
metabolism
,
with
about
250
known
cases
.
Affected
individuals
have
developmental
,
hematological
,
neurological
,
metabolic
,
ophthalmologic
and
dermatologic
clinical
findings
.
Although
considered
a
disease
of
infancy
or
childhood
,
some
individuals
develop
symptoms
in
adulthood
.
The
cblC
locus
was
mapped
to
chromosome
region
1
p
by
linkage
analysis
.
We
refined
the
chromosomal
interval
using
homozygosity
mapping
and
haplotype
analyses
and
identified
the
MMACHC
gene
.
In
204
individuals
,
42
different
mutations
were
identified
,
many
consistent
with
a
loss
of
function
of
the
protein
product
.
One
mutation
,
271
dupA
,
accounted
for
40
%
of
all
disease
alleles
.
Transduction
of
wild-
type
MMACHC
into
immortalized
cblC
fibroblast
cell
lines
corrected
the
cellular
phenotype
.
Molecular
modeling
predicts
that
the
C-
terminal
region
of
the
gene
product
folds
similarly
to
TonB
,
a
bacterial
protein
involved
in
energy
transduction
for
cobalamin
uptake
.
Diseases
Validation
Diseases presenting
"loss of function of the protein product"
symptom
homocystinuria without methylmalonic aciduria
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