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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
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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