David A. Geier is vice-president of the non-
profit 501(c)3 Institute of Chronic Il nesses, Inc (www.iciautism.com) and the non-profit Autism spectrum
501(c)3 CoMeD, Inc. (www.mercury- freedrugs.org). David is also the executive
director of ASD Centers, LLC (www. asdcenters.com). He has been a research DisorDers
scientist at the National Institutes of Health.
BY DaviD a. Geier, Ba, Mark r. Geier, MD, PhD, FaBMG, FaCe,
Autism spectrum disorders are transsulfuration metabolites, mitochondrial
Urinary Porphyrins
affect male children (five boys diagnosed
Researchers have identified a well-established
for every one girl). Currently, a diagnosis of
Mark R. Geier has an MD and a PhD in
exposure, which recently has been utilized in
genetics. He is board certified in genetics by the American Board of Medical Genetics
by a physician of early onset of impairments
the treatment of patients diagnosed with an
and is a Fel ow of the American Col ege of
in social interaction, communication, and
ASD. Porphyrins, derivatives of the heme (as
Epidemiology. Dr. Geier is a founder and
unusual stereotyped behaviors. The child
found in hemoglobulin) synthesis pathway,
medical director of ASD Centers, LLC (www.
provide a means to measure environmental
asdcenters.com) and has been in clinical
little interest in the world or people around
exposures.2 Recent studies conducted on
practice for more than 29 years during which time he has been involved in the evaluation
profound behavioral problems and delayed
urinary porphyrins in patients diagnosed
diagnosed with autism spectrum disorders.
or undeveloped skills. Furthermore, a child
with an ASD, and in each of these studies,
diagnosed with an ASD may display a range
mercury-associated urinary porphyrins were
of problem behaviors, such as hyperactivity,
poor attention, impulsivity, aggression, self-
controls.3-8 These observations are consistent
injury, and tantrums. In addition, many often
display unusual responses to sensory stimuli
increased brain mercury levels,9 increased
such as hypersensitivities to light, certain
blood mercury levels,10 increased mercury
sounds, colors, smells, or touch, as well as
levels in baby teeth,11 increased mercury
having a high threshold of pain.1
levels in hair samples,12 increased mercury
in urine/fecal samples,13,14 and decreased
a diagnosis of an ASD is exclusively based
upon an observational profile for a child,
haircuts15,16 among individuals diagnosed Rev. Lisa Sykes serves as the associate
with an ASD relative to controls. In addition,
pastor of Welborne United Methodist Church
many of these children have demonstrable
mercury-associated urinary pophryins were
in Richmond, Virginia. Lisa’s son, Wesley, was diagnosed with autism in 1998 and with
mercury poisoning in 2000. Lisa is president
medical abnormalities associated with an
spectrum. The higher the level of mercury-
ASD diagnosis is now possible through the
dedicated to the elimination of mercury from
use of routine clinical laboratory testing.
severe the ASD diagnosis (Asperger’s disorder
medicine. She is the author of a compel ing
In the patient with an ASD, clinical tests
< pervasive developmental delay – not
new book on autism titled Sacred Spark (www.sacredsparkbook.com).
should be run to assess urinary porphyrins,
otherwise specified < autism < autism +
epilepsy). Furthermore, using the Childhood
mitochondrial dysfunction present in many
Autism Rating Scale (CARS), a recognized
patients diagnosed with an ASD may include
test of ASD severity, researchers found a
administration of CARNITOR® (L-carnitine).27
significant and increasing correlation between
With sufficient CARNITOR® dosing, patients
mercury-associated urinary porphyrins and
CARS scores prior to blinded lab testing.4
In order to help lower urinary porphyrins,
coordination problems, and fatigue or low
chelation therapy, a medical treatment that
helps to remove heavy metals from the body, resulted in significant reductions in mercury-
Hormones
associated urinary porphyrins in patients
The ratio of ASD cases between the sexes,
diagnosed with an ASD.6-8
girl, likely reflects a male vulnerability to
developing an ASD, a hypothesis supported
by multiple lines of evidence. This male
vulnerability likely indicates an important
propanesulfonic acid (DMPS) and meso 2,3
-dimercaptosuccinic acid (DMSA), previously
human poisonings, males were found to be
shown to significantly lower mercury body
significantly more susceptible to mercury
burden (and hence lower urinary porphyrins)
toxicity than females. Also, in a series of
tissue culture experiments, testosterone
neurodevelopmental toxicity,17 may improve
clinical outcomes for patients diagnosed with
the neuronal toxicity of mercury, whereas
an ASD.18,19
homocysteine, cystathionine, glutathione,
and taurine testing. Supplementation with
the toxicity. Further, increased testosterone
reported survey data collected from over
targeted nutritional interventions using co-
was observed to occur in tissue culture,
factors to help the transsulfuration pathway,
diagnoses.19 The survey includes a list of
45 medications,23 non-drug supplements or
folinic acid, and pyroxidine (vitamin B-6), in
biomedical treatments, and nine special diets
ASD diagnosed patients with transsulfuration
used to treat ASD diagnosed patients. The
abnormalities help to improve clinical and
inhibiting the conversion of a key regulator
parents rated the treatments on a six-point
laboratory findings.21-23
metabolite called dehydroepiandrosterone
scale. Parents, assessing their children’s
condition before and after treatment, rated
Mitochondrial Dysfunction
chelation therapy (or the removal of heavy
Recent research has supported a role for mild
(DHEA-S).28-32 As a result, the body’s
metals) as the highest or best of these 77
mitochondrial dysfunction among patients
regulation of testosterone production is
disabled, and this causes excessive levels of
said that their child “got better” on this
carnitine and pyruvate were significantly
reduced, while ammonia and alanine levels
Transsulfuration Metabolites
were considerably elevated, in patients with
Glutathione, sulfate, and cysteine are key
testosterone and significantly decreased
substances in the transsulfuration pathway
of mild mitochondrial dysfunction.24
that help the body to excrete mercury, and
Furthermore, investigators have reported
recent studies on patients diagnosed with an
ASD have revealed significant abnormalities
high levels of testosterone and low levels
compared to controls, patients diagnosed
coordination problems (gross and fine), and
profiles on many cognitive tasks, changes
with an ASD have a decreased level of these
fatigue or low energy.25 Mercury exposure at
in play patterns, decreased eye contact,
metabolites that coincides with a decreased
low doses is known to cause mitochondrial
decreased socialization, lower verbal and
higher numerical intelligence, and brain
These differences among individuals help
patients diagnosed with an ASD.26
hemispheric asymmetries. Consistent with
to explain why children with similar mercury
Mitochondrial dysfunction tests available
this phenomenon, studies of patients with
exposure patterns may have different clinical
from LabCorp include carnitine, pyruvic acid,
naturally higher testosterone levels were
outcomes.20
lactic acid, and ammonia. Treatment of the
found to display significantly higher numbers
using the Autism Treatment Evaluation Checklist (ATEC) in the areas of socialization, sensory/cognitive awareness, and health/ physical/behaviors skills18 within about three months of therapy.
administration to nearly 200 patients diagnosed with an ASD (from young children to young adults), this therapy was found to produce significant ameliorations in hyperactivity/impulsivity, stereotypy, aggression, self-injury, abnormal sexual behaviors, and/or irritability behaviors that frequently occur in patients diagnosed with an ASD, with few non-responders to the therapy. Furthermore, LUPRON® helped to lower blood testosterone levels significantly and was found to have minimal
ASDs have a biological basis as demonstrated in clinically
adverse clinical effects.29 Other drugs with known anti-testosterone effects, such as available lab testing, and currently utilized observational
ALDACTONE® (spironolactone), may also have beneficial effects on patients diagnosed
symptoms used in the diagnosis of an ASD neglect the
with an ASD.36 Menstrual-aged females with importance of medical evaluations and testing.
an ASD diagnosis may benefit additionally from increased estrogen levels from YAZ®
of autistic traits than controls.29,33-35
function profile II, dehydroepiandrosterone,
(drospirenone/ethinyl estradiol).27
Clinical examinations of patients diagnosed
with an ASD reveal that girls with an ASD
Conclusion
diagnosis (and even other family members)
glucuronide, dihydrotestosterone, estradiol,
show a significant delay in the onset of
A clinical trial study of the use of anti-
observations by a physician. ASDs have a
more likely to display elevated rates of
biological basis as demonstrated in clinically
testosterone-related medical disorders than
previously reported. The anti-testosterone
available lab testing, and currently utilized
neurotypical controls. Among the conditions
therapeutic agent of LUPRON® (leuprolide
diagnosis of an ASD neglect the importance
patients diagnosed with an ASD and/or in
their families are hirsutism (excessive hair
found to significantly lower testosterone
growth); bisexuality or asexuality; irregular
denominator of mercury intoxication as an
menstrual cycle; dysmonorrhea; polycystic
significantly reduce autistic-like behaviors.
important causal factor for many patients
In some of the patients examined, significant
As the biomedical understanding of autism
of ovarian, uterine, breast, and prostate
within days of administration of LUPRON®,
advances at a quickening pace, new testing
cancers, tumors or growths. In addition, boys
such as better sleep patterns, improvements
and treatments are becoming increasingly
in attention and hyperactivity, and increased
available. Blood and urine testing is essential
rates of diagnosed premature puberty.33-35
socialization. In addition, LUPRON® therapy
Finally, a cohort study of 70 consecutive
helped to significantly ameliorate clinical
patients with an ASD diagnosis revealed that
more information may now become available
their blood samples, collected and analyzed
elevated testosterone in the blood, such as
at LabCorp, showed significantly increased
early growth spurt, early secondary sexual
perhaps with causal contributing factors.
average levels of serum testosterone, serum
changes (e.g., masturbation), body and facial
This is an encouraging time with important
free testosterone, percent free testosterone,
hair, and aggressive behaviors that may be
possibilities for all who live and work with
to controls.29
clinics across the US can be found on the
available from LabCorp includes testicular
significantly lower ASD symptoms measured
web at www.asdcenters.com. References 1 Austin D. An epidemiological analysis 14 Bradstreet J, Geier DA, Kartzinel JJ, et al. 26 Cambier S, Bernard G, Mesmer-Dudons
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A case-control study of mercury burden in
N, et al. At environmental doses, dietary
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methylmercury inhibits mitochondrial energy
J Am Phys Surg 2003;8(3):76-79.
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2 Woods JS, Martin MD, Naleway CA, et al. 15 Adams JB, Romdalvik J, Levine KE,
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Urinary porphyrin profiles as a biomarker of
et al. Mercury in first-cut baby hair of
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