This is a sample Prior/Authorization for Monica's daughter Taleah English for amino acid diet!
From
Bach
To
Medicaid
for
Taleah
English,
SMA
type1:
Taleah
is
a
9
month
old
girl
with
spinal
muscular
atrophy
type
1.
This
is
a
disorder
of
muscle
and
of
fatty
acid
metabolism.
Within
3
hours
of
a
normal
meal,
blood
amino
acid
levels
of
children
with
SMA
decrease
to
levels
that
would
not
be
reached
until
after
at
least
8
hours
of
fasting
in
normal
children.
In
addition,
infants
with
SMA
type
1
do
not
efficiently
metabolize
fatty
acids,
a
major
source
of
energy
during
fasting.
These
children
can
have
high
levels
of
fatty
acid
by
products
in
their
urine
and
blood
after
overnight
fasting. In
addition
to
metabolic
aberration
associated
with
immobility,
systemic
illness,
muscle
denervation,
and
muscle
atrophy,
SMA
patients
have
inborn
metabolic
abnormalities
in
mitochondrial
fatty
acid
oxidation
and
carnitine
metabolism.
Any
process
that
increases
cytoplasmic
free
fatty
acid
levels,
such
as
fasting
or
defects
of
fatty
acid
transport
or
betaoxidation,
would
be
expected
to
increase
the
liver
and
kidney's
production
and
excretion
of
dicarboxylic
acids.
Fasting
ketosis
reflects
normal
ketogenesis
by
utilization
of
free
fatty
acids
by
the
livers
of
SMA
patients,
but
defective
beta-oxidation
of
fatty
acids
by
muscle
causes
fatty
acid
metabolites
like
dicarboxylic
acids
to
spill
into
the
blood.
Dicarboxylic
acid
levels
are
elevated
in
the
urine
of
infants
with
SMA
type
1
patients
tolerate
the
briefest
fasting
without
ketosis
and
dicarboxylic
aciduria
whereas
SMA
type
3
patients
express
these
abnormalities
only
during
prolonged
fasting,
illness
and
periods
of
physiologic
stress. With
relatively
minor
fasting
infantile
SMA
patients
develop
dicarboxylic
aciduria
similarly
to
patients
with
primary
defects
of
mitochondrial
fatty
acid
beta-oxidation.
(1)
Metabolic
analyses
including
the
appearance
of
relatively
early
ketosis
and
selective
renal
loss
of
carnitine
(2)
and
fatty
vacuolization
of
the
liver,
suggest
that
the
abnormalities
are
caused
by
changes
in
the
cellular
physiology
related
to
the
molecular
defects
of
the
SMA
pathogenic
Survival
Motor
Neuron
gene
or
neighboring
genes.
Thus,
the
defect
may
be
epigenic
to
the
molecular
pathogenesis
of
SMA
itself
or
related
to
another
function
of
the
primary
genetic
defect.
It
may
also
contribute
to
the
development
of
SMA.
(1)
Abnormal
fatty
acid
metabolism
also
appears
to
resolve
with
age
independent
of
disease
severity. (1)
Very
often
before
10
years
of
age
or
during
periods
of
physiologic
stress,
SMA
patients
suddenly
lose
muscle
strength
at
a
high
rate.
(3)
Loss
of
strength
is
often
triggered
by
respiratory
tract
infections
and
other
episodes
of
physiologic
stress
and
under
nutrition
and
tends
to
become
progressive
and
is
most
severe
in
infants.
It
is
very
likely
that
the
muscle
weakening
in
SMA
infants
is
due
to
the
inborn
errors
in
fatty
acid
oxidation
rather
than
to
primary
SMA
denervation
and
that
the
weakening
can
be
abated
or
averted
with
dietary
manipulation.
Diets
high
in
carbohydrate,
amino
acids
and
polypeptides,
and
low
in
fat
provide
muscle
with
utilizable
energy
substrates
thereby
decreasing
dependence
on
fatty
acid
oxidation
and
decreasing
excessive
accumulation
of
potentially
toxic
free
fatty
acids
which
can
further
damage
muscle. This
diet
maintains
more
normal
blood
glucose
levels
during
fasting,
delays
fasting
associated
ketoacidosis,
and
has
been
noted
to
normalize
liver
function
enzyme
levels.
Provision
of
amino
acids
and
short
chained
peptides
instead
of
complex
dairy
proteins
facilitates
glucogenesis
and
also
appears
to
have
a
beneficial
effect
on
decreasing
airway
secretion
production
for
some
children. Harpey
et
al.
felt
that
there
was
a
significant
improvement
in
strength
and
function
for
13
patients
treated
with
modified
diets
that
provide
high
carbohydrate
and
elemental
amino
acids
and
small
chained
polypeptides,
such
as
Tolerex
and
Pediatric
Vivonex
(Novartis,
Minneapolis).
(4)
Although
90%
of
SMA
type
1
patients
have
been
reported
to
have
died
and
the
oldest
are
now
8
years
of
age.
Therefore,
I
have
prescribed
Pediatric
Vivonex
for
Taleah. John
R
Bach,
MD Professor
of
Physical
Medicine
and
Rehabilitation
Vice
Chairman,
Department
of
Physical
Medicine
and
Rehabilitation,
Professor
of
Neurosciences,
Department
of
Neurosciences (1)
Crawford
TO,
Sladly
JT,
Hurk
O,
Besner-Johnston
A,
Kelley
RI.
Abnormal
fatty
acid
metabolism
in
childhood
spinal
muscular
atrophy.
Ann
Neurol
1999;
45:
337-343 (2)
Tein
I,
Sloan
AE,
Donner
EJ,
Lehotay
DC,
Millington
DS,
Kelley
RI.
Fatty
acid
oxidation
abnormalities
in
childhood-onset
spinal
muscular
atrophy:
primary
or
secondary
defects?
Pediatr
Neurol
1995;
12:
21-30 (3)
Iannaccone
ST,
Russman
BS,
Browne
RH,
Buncher
CR,
White
M,
Samaha
FJ.
Prospective
analysis
of
strength
in
spinal
muscular
atrophy.
DCN/Spinal
Muscular
Atrophy
Group.
J
Child
Neurol
2000;
15:
97-101 (4)
Harpey
JP,
Charpentier
C,
Paturneau-Jonas
M,
Renault
F
Romero
N,
Fardeau
M.
Secondary
metabolic
defects
in
spinal
muscular
atrophy
type
2.
Lancet
1990;
336:
629-630