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Serum tryptophan to large neutral amino acid ratio and urinary tryptophan in three patients with phenylketonuria in a family. A clinical and biochemical study.
[classical phenylketonuria]
In
this
work
clinical
and
biochemical
findings
are
presented
in
three
untreated
children
with
phenylketonuria
in
a
family
.
Their
clinical
pictures
were
not
typical
for
classical
phenylketonuria
.
As
a
result
,
diagnosis
was
missed
.
It
has
been
shown
that
patterns
of
large
neutral
amino
acids
in
serum
and
urine
were
somewhat
different
.
Significantly
lower
serum
TRP
/
LNAA
ratio
was
observed
in
all
patients
with
phenylketonuria
,
compared
to
the
control
group
.
These
findings
suggest
that
there
was
subnormal
tryptophan
availability
in
the
central
nervous
system
leading
to
its
decreased
metabolism
through
the
serotonin
and
kynurenine
pathways
.
These
results
may
explain
decreased
children
's
growth
and
their
mental
deficiency
.
Diseases
Validation
Diseases presenting
"its decreased metabolism through the serotonin"
symptom
classical phenylketonuria
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