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A random Abstract
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Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation.
[classical phenylketonuria]
We
report
our
experience
in
a
cohort
of
patients
with
hyperphenylalaninemia
in
a
tertiary
care
referral
center
in
Lebanon
.
Forty
-
one
sequential
patients
were
studied
:
34
classical
phenylketonuria
(
PKU
)
,
3
hyperphenylalaninemia
(
non-
PKU
)
,
and
4
biopterin
metabolism
defects
.
The
majority
of
cases
were
clinically
diagnosed
at
variable
ages
with
variable
neurological
outcomes
.
Only
29
.
3
%
were
detected
by
neonatal
screening
.
Two
unusual
cases
were
observed
in
the
context
of
inadequate
treatment
in
1
and
delayed
therapy
in
the
other
:
a
newborn
with
PKU
developed
severe
keratomalacia
;
and
a
5
-
year
-old
girl
with
dihydropteridine
reductase
deficiency
due
to
a
novel
mutation
identified
in
the
quinoid
dihydropteridine
reductase
gene
developed
Lennox-
Gastaut
syndrome
and
white
matter
changes
with
periventricular
cysts
.
Part
of
our
experience
parallels
that
in
the
West
.
However
,
the
clinical
manifestations
observed
in
our
patients
emphasize
the
importance
of
a
national
newborn
screening
program
with
efficient
management
of
diagnosed
cases
.
