Lactnetters,
  When the question came up about breastfeeding and PKU
I contacted Wendy Nawn at Tyler for Life, a group that advocates and
educates about testing for metabolic disorders at birth.
Below is Wendy's response. I hope it is helpful. If anyone
wants further information, her contact info. and that
of Tyler for Life are included.
  Naomi Bar-Yam
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People with PKU need low protein, or restricted protein, diet.  The
protein
found in our foods is what causes children with PKU to grow up mentally
retarded.  They cannot process protein properly; it results in abnormal
chemicals and causes retardation.

Actually I understand breastmilk has less protein in it than store-bought
formula.  But, babies with PKU are required to be on a special-order
formula
that contains only the types of protein they CAN process metabolically.
Such formulas are special-order and expensive - not available in stores.

As they grow, children with PKU are advised depending on severity or
mildness of PKU, and depending on doctor's treatment (treatment plans
vary).
Some with more mild PKU are allowed to go "off diet" and eat whatever they
want at a certain age; others with more severe PKU are advised to stay on
the special-order formula for life.

Diet-wise, the amount of protein allowed is restricted by the metabolic
doctor and the dietician.  However, in order to grow and develop normally,
they still need protein - that's why the special-order formula that
contains
the certain types of protein that they can process properly.  The
special-order formula makes up for what their diet lacks, protein-wise.

On another note, advising against breastfeeding is also true of other, but
not all, metabolic disorders, not only because of the protein issue
(organic
acidemias are metabolic disorders where they cannot properly process
protein), but also the issue of lack of sugar in colostrum (fatty-acid
oxidation disorders, where they cannot go without sugar).  As in my son's
case, he has MCAD.  Now that we know, we have been specifically advised
that
with future children, we are required to supplement or to bottle-feed, at
least until the milk comes in or newborn screening results are known,
whichever comes first.  I'll explain.

With MCAD he has a defective enzyme that cannot convert fat reserves to
sugar.  His sugar has to come solely from food source.  If he ever goes
too
long without consuming sugar, he can have coma, seizures, cardiac arrest,
respiratory arrest, or sudden death.  Babies who are breastfed exclusively
get colostrum (no or very little sugar) the first few days of life, until
the milk comes in.  I'm sad to say babies with MCAD, VLCAD, LCHAD, SCAD,
certain urea cycle disorders and certain amino acid disorders can actually
die from lack of sugar in colostrum.  They can die because they fast.
Fasting is always life-threatening for people with certain metabolic
disorders (not PKU but MCAD and many others).  A perfect baby's body can
convert the colostrum to sugar, so breastfeeding works in most babies.
But
in these certain kids, they cannot convert the colostrum into sugar (due
to
the defective enzyme), so breastfeeding exclusively does not work for
them,
and they can die or suffer heart attack and very serious symptoms.

Just because they are breastfed and not supplemented, does not mean
necessarily that they die or suffer brain damage.  By the time newborn
screening results are in, the colostrum period is already over and harm
has
already been done, or no harm has been done.  Sometimes moms breastfeed
exclusively, then they learn of a positive newborn screening result, but
the
baby grows up fine anyway - perhaps due to a mild case of the metabolic
disorder, or the milk came in very quickly, or a combination thereof.
Other
times, the baby dies or has already suffered a heart attack.  I know
families this has happened to.

One family story is on the Tyler for Life website (www.tylerforlife.com)
under "family stories,"  "Storm and Tiger Hall."  Storm was born in 1996
with VLCAD, but no one knew he had VLCAD because the newborn screening for
VLCAD was not done (and still is not done in that state!)  Storm's mom
breastfed exclusively - Storm was her third baby.  The first two children
do
not have VLCAD.  Storm's heart stopped and he died at only 28 hours old,
because with VLCAD you must never go too long without sugar.  The
pathologist MISdiagnosed his death as a heart defect.  In 1999, Tiger was
born, also with VLCAD but also not screened for VLCAD.  There was no known
reason to screen for VLCAD - VLCAD is not part of the newborn screening
panel in New Mexico, and the pathologist had given the family the
INCORRECT
cause of death the first time.  So, Tiger too was breastfed exclusively
and
he too died tragically at only 28 hours old.

In another case, a baby in Pennsylvania had VLCAD but no one knew it 18
years ago.  He was breastfed.  The lack of sugar combined with his
defective
enzyme caused him to suffer a heart attack.  Today the young man is 18
years
old.  He is brain damaged, but is self-sufficient: works, lives somewhat
independently.

While cases like these are relatively rare, and while there are cases of
children with metabolic disorders who were breastfed exclusively and did
fine - about 1,000 babies are born per year in the US who are at risk for
serious consequences of lack of sugar.   They have MCAD and other
fatty-acid
oxidation disorders, or certain urea cycle or certain amino acid
disorders.

The FOD (Fatty-acid Oxidation Disorders) Family Support Group prints a
page
in their newsletter of children who have died.  It has their names, birth
dates and death dates.  When you see babies dying from undiagnosed FOD's
within a few days of birth, you suspect they were likely breastfed
exclusively and not supplemented.  All people who die or suffer brain
damage
from FOD's go without sugar; the lack of sugar is the trigger for death
and
brain damage, or near death experience (sometimes a smart doctor figures
it
out in time but it's VERY difficult).

With PKU, I understand you have about 3 weeks to intervene.  That is a
pretty long time.  People with PKU can fast, they can go without sugar.
Ideally it works like this:  parent breastfeeds PKU baby because mom does
not know baby has PKU.  Then, newborn screening results are learned; baby
has PKU.  Mom gives baby the required special-order formula - all within 3
weeks.  Baby follows special diet throughout life, baby grows up normally.

Unfortunately with FOD's, certain amino acid disorders and certain urea
cycle disorders, triggered by fasting, you don't necessarily have the
luxury
of a 3-week period.

Basically neonates are at risk for all kinds of things (28,000 babies die
each year in the US alone, from all sorts of causes, metabolic and
otherwise, during the first 4 weeks of life).  You just never know what
you'll get.  We're pretty happy with our Alex :)

Wendy Nawn
Malvern, PA
Mom to Alex, 2, MCAD, screened at birth
Vice President - Tyler For Life Foundation, Inc.
Phone: (610) 251-9876
Cell: (610) 420-2058
NBS Unity Quilt Toll Free: (866) 710-8202
www.tylerforlife.org
NEWBORN SCREENING:  saving babies one foot at a time (c)
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