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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
"metabolic acidosis"
symptom
congenital diaphragmatic hernia
homocystinuria without methylmalonic aciduria
neonatal adrenoleukodystrophy
pendred syndrome
pyruvate dehydrogenase deficiency
scrub typhus
systemic capillary leak syndrome
This symptom has already been validated