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Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience.
[homocystinuria without methylmalonic aciduria]
Diagnosis
of
aminoacidopathies
and
organic
acidemias
constitutes
a
real
challenge
in
a
developing
country
with
high
consanguinity
rate
and
no
systematic
newborn
screening
.
We
report
a
twelve
-
year
experience
with
the
identification
of
these
disorders
in
Lebanon
,
based
on
their
clinical
and
biochemical
profiles
.
In
this
retrospective
study
,
we
reviewed
clinical
presentation
and
biochemical
investigations
of
294
patients
.
Traditional
chromatographic
methods
were
used
for
analyses
.
Findings
were
linked
to
the
identified
disorders
.
Out
of
2921
patients
,
presenting
to
our
metabolic
program
with
neurological
,
digestive
,
family
history
and
/
or
other
symptoms
suggestive
of
aminoacidopathy
or
organic
acidemia
,
294
patients
were
included
with
confirmed
amino
or
organic
acid
disorder
.
The
overall
analytical
yield
was
10
%
.
Aminoacidopathies
were
three-fold
higher
than
organic
acidemias
.
Phenylketonuria
and
methylmalonic
acidemia
were
the
most
frequent
.
The
majority
of
patients
(
79
%
)
were
symptomatic
(
median
age
:
14
months
,
range
:
1
day
-
44
years
)
,
mainly
with
neurological
manifestations
(
87
%
)
.
Intellectual
disability
was
mostly
due
to
phenylketonuria
(
73
%
)
.
Chronic
liver
failure
was
frequent
in
maple
syrup
urine
disease
(
53
%
)
.
Plasma
amino
and
urine
organic
acid
chromatography
were
diagnostic
in
8
.
8
%
and
3
.
9
%
of
analyzed
cases
,
respectively
.
Change
in
chromatographic
technique
from
reversed-phase
to
ion-exchange
enhanced
the
detection
of
many
aminoacidopathies
.
In
the
absence
of
newborn
screening
,
the
majority
of
aminoacidopathy
and
organic
acidemia
cases
are
still
diagnosed
clinically
.
This
study
emphasizes
the
importance
of
clinical
awareness
and
accurate
biochemical
analyses
as
key
tools
for
diagnosis
in
countries
like
ours
,
and
the
necessity
for
a
comprehensive
national
newborn
screening
program
.
Diseases
Validation
Diseases presenting
"liver failure"
symptom
benign recurrent intrahepatic cholestasis
congenital diaphragmatic hernia
erythropoietic protoporphyria
heparin-induced thrombocytopenia
homocystinuria without methylmalonic aciduria
legionellosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
