Genetic Mutation in Folic Acid Metabolism Raises Risk of Birth Defects
for 12% of Pregnant Women
GA, 12 April 2004
Source: First Horizon Pharmaceutical Corporation
many as one in eight women taking prenatal vitamins containing folic
acid may not be capable of properly metabolizing folic acid into
the form of folate needed to help prevent serious birth defects.
a B-vitamin commonly supplied as folic acid, helps reduce the risk
of a serious classification of birth defects known as neural tube
defects. Such defects include often devastating abnormalities such
as spina bifida and anencephaly. However, while most prenatal vitamins
contain the recommended daily allowance (RDA) of folic acid ,
the essential biologically active form of folate (5L-Methyltetrahydrofolate)
may not be fully attainable in one in eight women due to a common
genetic mutation. This mutation results in a defect in folic acid
metabolism that may be present in as high as 20 percent of the women
in certain ethnic populations.
the most widely prescribed prenatal vitamin in the United States,
is now available to women of childbearing age and expectant mothers
in a new formula, Prenate Elite, which contains Metafolin®
(5L-Methyltetrahydrofolate), the only biologically active form of
folate available on the market. First Horizon Pharmaceutical
Corporation announced the new product innovation today.
Mutation Poses a Problem
landmark study published in 2000 by L.D. Botto and Q. Yang of the
Centers for Disease Control and Prevention in the American Journal
of Epidemiology  demonstrated that one in eight women
have a genetic trait that may prevent proper metabolism of folic
acid. This trait may be present in more than 40 percent of Hispanic
women, as well as other ethnic subgroups. The company immediately
started to work on a new formulation of its most commonly prescribed
prenatal vitamin, Prenate.
2000 study helped explain why neural tube defects, especially in
certain ethnic populations, continue to be a problem despite a significant
use of folic acid in prenatal vitamins," says Dr. Jeffrey Ellis,
a practicing ObGyn and Clinical Assistant Professor at the Medical
College of Georgia. "Without sophisticated and expensive genetic
testing, which is not routinely performed, we can't identify those
women who have a genetic predisposition to not properly metabolize
folic acid. With Prenate Elite, we can ensure that all women take
a form of folate that can be readily absorbed and metabolized, providing
real protection against these devastating birth defects. Prenate
Elite represents a major advance in overcoming an increasing recognized
genetic risk for neural tube defects."
Tube Defects and Folic Acid
tube defects are among the most serious birth defects in the United
States. The two major types of such defects are anencephaly, which
is almost always lethal, and spina bifida. An estimated 2,500 babies
are born with neural tube defects every year and many additional
affected pregnancies result in miscarriage or stillbirth.
those babies living with spina bifida, aggressive surgical and medical
care is often necessary, along with special schooling and rehabilitative
services for patients with permanent disabilities. They may also
have learning problems, and some may have mental retardation. Many
will use a wheelchair or leg braces throughout their life. It is
estimated the lifetime cost of spina bifida is $258,000 per case.
the developing fetus, folate, which is required in the development
of DNA synthesis and repair, helps the baby's brain and spinal cord
develop properly. However, folate must be available in the first
28 days of the pregnancy to prevent the neural tube defects. Further
evidence supports additional roles for folate in fetal development
later in the pregnancy, including the heart, limbs and face.
1992 the US Public Health Service recommended that all women of
childbearing age consume 400 micrograms (0.4 mg) of folic acid daily.
In addition, the US Centers for Disease Control and Prevention estimated
that if all women of childbearing age took folate, the incidence
of birth defects of the brain and spine could be reduced by as much
as 70 percent. Yet a September 2003 study published by the March
of Dimes found that less than one-third of American women of childbearing
age took a daily multivitamin containing folic acid.
50 percent of all pregnancies in the US are unplanned," said James
McGregor MD, attending physician with the Department of Obstetrics
and Gynecology at UCLA/Cedars Sinai Health System in Los Angeles.
"By the time many women learn they are pregnant, the crucial period
immediately following conception has already passed and any abnormal
developments in the neural tube have already occurred. So recommending
that all women of childbearing years take a prenatal vitamin containing
a biologically available form of folate is a reasonable precaution
Elite is now available via prescription at pharmacies throughout
the US. In addition to Metafolin® (5L-Methyltetrahydrofolate),
the only biologically active form of folate available on the market,
the vitamin also contains 15 essential ingredients, plus docusate
sodium, a gentle stool softener. Prenate Elite is a small, dye-free,
film-coated tablet with minimal taste and odor that is easy for
patients to take.
Horizon is proud to offer physicians and their patients a new tool
for ensuring healthier babies," said John Edwards, MD, Medical Director
at First Horizon Pharmaceutical Corporation. "Prenate Elite addresses
an often overlooked metabolic problem in women who are pregnant
or planning to become pregnant and provides extra assurance that
a woman's nutritional needs will be met. With Prenate Elite, First
Horizon is continuing its commitment to staying at the forefront
of scientific developments in order to bring women products that
address unmet and under-served clinical needs."
Horizon Pharmaceutical Corporation
Horizon Pharmaceutical Corporation is a specialty pharmaceutical
company that markets and sells prescription products with a primary
focus on cardiology and women's health/pediatrics. The Company has
a portfolio that includes 14 branded prescription products of which
six are actively promoted to high-prescribing physicians through
its nationwide marketing and sales force of approximately 360 representatives.
acid alone is improper therapy in the treatment of pernicious anemia
and other megaloblastic anemias where vitamin B12 is deficient.
Folic acid in doses above 0.1 mg daily may obscure pernicious anemia
in that hematologic remission can occur while neurological manifestations
progress. Allergic sensitization has been reported following both
oral and parenteral administration of folic acid.
Accidental overdose of iron-containing products is a leading
cause of fatal poisoning in children under 6. Keep this product
out of reach of children. In case of accidental overdose, call a
doctor or poison control center immediately.
The Recommended Dietary Allowance (RDA) is the average daily dietary
intake level that is sufficient to meet the nutrient requirements
of nearly all (97 to 98 percent) healthy individuals in each life-stage
and gender group. For men and women 19 and over, the RDA for Folate
is 400 mcg. "Facts
about dietary supplements,"
NIH Clinical Center, National Institutes of Health.
Botto, L.D. and Q Yank, "5,10-Methylenetetrahydrofolate reductase
gene variants and congenital anomalies: a Huge review"; American
Journal of Epidemiology, Vol 151, Issue 9:862-877.
Horizon Pharmaceutical Corporation (www.fhrx.com,