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Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation.
[homocystinuria without methylmalonic aciduria]
Hypoglycemia
is
the
usual
feature
of
commonly
occurring
organic
acidemias
.
Organic
acidemias
manifesting
as
hyperglycemia
or
diabetic
ketoacidosis
are
rare
and
only
a
few
cases
have
been
reported
.
We
report
a
13
-
month
-old
boy
who
presented
with
vomiting
,
dehydration
,
coma
,
hyperglycemia
,
high
anion
gap
metabolic
acidosis
and
ketosis
,
mimicking
diabetic
ketoacidosis
(
DKA
)
.
Treatment
with
parenteral
fluid
,
electrolytes
,
and
insulin
infusion
resulted
in
an
improvement
in
hyperglycemia
,
but
persistence
of
metabolic
acidosis
and
lack
of
improvement
of
neurologic
status
led
us
to
suspect
an
organic
acidemia
.
Urinary
organic
acid
analysis
revealed
increased
methylmalonic
acid
levels
.
In
addition
,
hyperhomocysteinemia
and
homocystinuria
were
also
noted
in
presence
of
normal
vitamin
B
12
levels
.
This
confirmed
the
diagnosis
of
cobalamin
metabolism
defect
leading
to
combined
methylmalonic
aciduria
and
homocystinuria
.
There
was
some
improvement
in
neurologic
status
and
metabolic
parameters
after
treatment
with
low
-protein
diet
,
vitamin
B
12
,
folic
acid
,
and
L-
carnitine
,
but
he
ultimately
succumbed
to
polymicrobial
nosocomial
sepsis
.
The
entire
MMACHC
gene
of
the
patient
was
sequenced
and
no
mutations
were
identified
.
This
is
probably
the
first
case
report
of
cobalamin
intracellular
metabolism
defect
(
CblC
/
CblD
/
CblF
/
CblJ
or
ABCD
4
)
presenting
as
diabetic
ketoacidosis
.
Diseases
Validation
Diseases presenting
"hypoglycemia"
symptom
cowden syndrome
esophageal carcinoma
homocystinuria without methylmalonic aciduria
kabuki syndrome
proteus syndrome
triple a syndrome
This symptom has already been validated