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Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment.
[classical phenylketonuria]
Six
subjects
with
classical
phenylketonuria
(
PKU
)
were
treated
with
large
neutral
amino
acid
supplements
(
PreKUnil
,
Nilab
,
Dk
)
at
0
.
4
g
/
kg
/
day
in
equally
divided
doses
three
times
each
day
on
an
increased
natural
protein
diet
.
All
six
subjects
had
low
or
deficient
blood
concentrations
of
both
tyrosine
and
tryptophan
,
which
are
precursors
for
dopamine
and
serotonin
,
respectively
,
at
the
beginning
of
the
study
and
were
increased
substantially
throughout
the
study
.
Blood
phenylalanine
concentrations
remained
essentially
unchanged
,
while
the
brain
phenylalanine
concentrations
gradually
decreased
toward
the
carrier
range
as
seen
in
parents
of
children
with
PKU
.
Two
subjects
were
diagnosed
with
clinical
depression
and
were
in
counseling
programs
at
initiation
of
the
study
.
At
the
end
of
the
study
all
patients
reported
increased
energy
and
overall
improvement
in
well-being
.
Diseases
Validation
Diseases presenting
"depression"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
aromatase deficiency
cadasil
child syndrome
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dracunculiasis
fabry disease
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
locked-in syndrome
malignant atrophic papulosis
oligodontia
oral submucous fibrosis
phenylketonuria
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
This symptom has already been validated