Crosspost: DEFICIENT CHOLESTEROL

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I found this article at: http://www.greatplainslaboratory.com/cholesterol/web/

DEFICIENT CHOLESTEROL:

A COMMON NEW FACTOR IN AUTISM

Cholesterol supplementation reverses many symptoms of autism in SLOS disorder.

This deficiency also common in " regular " autism

- SLOS and Autism

- Lithium deficiency common in mental illness and social ills

- Cholesterol doses to treat SLOS

- Benefits of cholesterol feeding in SLOS

- Cholesterol deficiency: common in regular ASD as well as in SLOS

- Benefits of cholesterol in the diet

- Functions of Sonic Hedgehog (SHH)

- Testing for cholesterol, cholesterol transport proteins, and homocysteine

- Why the brain needs cholesterol

- ina's story and cholesterol

- References

Dr. , a research physician at Hopkins University has found,

along with his colleagues, that autistic symptoms prevalent in the genetic

disorder SLOS quickly reversed after supplementation with dietary cholesterol.

Some of the many improvements included sleeping through the night, overcoming

aberrant behaviors, learning to walk, speaking for the first time and becoming

more responsive and social family members. In addition, other benefits of

cholesterol supplementation included a decreased rate of infections, reduced

skin rashes, marked reduction in self-hurtful behaviors, improved muscle tone,

decreased tactile defensiveness, more rapid growth and improved behavior

overall. Parents reported their children having significant decreases in

autistic behavior and even some adults, without speech, spoke for the first time

- all within days of taking cholesterol supplements. These changes occurred

before cholesterol values had increased in the blood, which indicates that the

improvements may be a result of cholesterol forming its derivatives - such as

steroid hormones or bile salts.

SLOS and Autism

-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic disorder

associated with autism, multiple malformations and mental retardation syndrome

initially described by Lemli, and Opitz. The syndrome (SLOS) is due to a

deficiency of 7-dehydro-cholesterol (7DHC) reductase, the enzyme responsible for

catalyzing the final step in cholesterol synthesis indicated in a simplified

figure of cholesterol metabolism on page 2. As a result of this enzyme

deficiency, 7-dehydro-cholesterol accumulates and the level of cholesterol

dramatically decreases. Although some children with SLOS have severe physical

abnormalities, many are only mildly affected and autistic behaviors may be their

only major abnormality. Since the biochemical test for this disease is done so

rarely, it may be possible that there are many other children with SLOS, with

fewer anatomic abnormalities, in which the diagnosis is missed. As a result of

this enzyme deficiency, individuals with this disorder have extremely low

cholesterol values but extremely high values of 7-dehydrocholesterol. One person

with SLOS had the lowest cholesterol value (< 1mg/dL) ever measured in serum

while most Americans have values between 150-250 mg/dL.

Because cholesterol levels are insufficient in persons with SLOS, virtually none

of the normal steroid hormones and bile salts derived from cholesterol can be

adequately produced. However, abnormal forms of these hormones derived from

7-DHC can be produced instead. It is important to note that cholesterol is an

essential element in myelin, which is the insulating material essential for

nerve function (especially in the brain). Persons with SLOS will possess varying

degrees of cognitive abilities ranging from borderline intellectual functioning

to profound mental retardation. It is common for them to also exhibit sensory

hyper-reactivity, irritability, language impairment, sleep cycle disturbance,

self-injurious behavior, and autism spectrum behaviors. In one study, nearly 50%

of children with SLOS met the DSM-IV criteria for autism. In another study, 86%

of children with SLOS had an autistic spectrum disorder. Many of the behavioral

abnormalities of SLOS significantly respond to supplementation with cholesterol.

If autism is prevalent in SLOS, and the autistic symptoms improve with

cholesterol supplementation, then it is conceivable that any severe biochemical

abnormality leading to de-myelination needs to be explored as a possible cause

of autism.

Lithium deficiency common in mental illness and social ills

Jim found that in an evaluation of hair samples from children with autism

that lithium values were significantly lower in young children of autism and

their mothers. I have made similar observations on many children with autism

tested through The Great Plains Laboratory. The lithium values of some children

with autism are in the lowest one percentile. Ironically, the use of highly

purified water to prevent ingestion of toxic chemicals may have deprived

pregnant women of a trace amount of lithium found in tap water needed for normal

brain development and this deficiency appears to be a significant autism risk

factor. This switch to purified bottled water has taken place in the past 20

years during the same time as the surge in the autism epidemic. The tenfold

increase in bottled water consumption (graph on page 1) coincides nearly exactly

with an approximate ten-fold increase in autism incidence over the same time

period. It is possible that this factor might in fact be equal in importance to

mercury exposure as an autism risk factor.

In very small amounts lithium appears to be an essential element needed for good

mental health. Areas of the country where lithium is present at high levels in

the drinking water have less violence and crime. A study of 27 Texas counties

found that the incidences of suicide, homicide and rape were significantly

higher in counties whose drinking water supplies contained little or no lithium

compared to counties with higher water lithium levels, even after correcting for

population density. Corresponding associations with the incidences of robbery,

burglary and theft were also significant, as were associations with the

incidences of arrests for possession of opium, cocaine and their derivatives. In

addition, I have commonly found very low lithium values in hair samples of

patients with schizophrenia. Furthermore, hair lithium has been shown to be a

good indicator of lithium deficiency. Scalp hair lithium levels reflect the

average intakes of bioavailable lithium over a period of several weeks to months

and represent a noninvasive means of determining the dietary lithium intakes.

Furthermore, lithium is needed to transport folate and vitamin B-12 into the

brain. The common deficiencies of lithium may be one of the reasons children

with autism require such high doses of certain forms of these vitamins.

A typical hair profile of a child with autism is shown in the adjoining diagram,

demonstrating the extremely low lithium intakes common in autism. Blood tests

done at conventional medical laboratories measure lithium but only are useful to

measure the extremely high lithium levels associated with lithium drug therapy.

Such tests are useless for the measurement of the very low lithium levels

associated with nutritional lithium.

A provisional Recommended Daily Allowance (RDA) for a 70 kg adult of 1,000

mcg/day (about 1% of the dose of lithium commonly used as a pharmaceutical

agent) has been suggested for a 70 kg adult, corresponding to 14.3 mcg per kg

body weight. Note carefully that mcg stands for micrograms, not milligrams (mg)!

Doses of lithium between 150-400 mcg per day (doses that are nutritional rather

than pharmacological) resulted in improved mood in drug abusers, some of whom

had a long history of drug abuse. The nutritional use of lithium is completely

safe. No safety assessments or blood tests need to be done for nutritional

supplementation of lithium in contrast to the use of lithium as a drug, which

requires blood testing to prevent toxic overdose. If hair values are low or a

person only drinks purified deionized or reverse-osmosis water, I think the

person should take lithium supplements. New Beginnings Nutritionals has a

convenient liquid that contains 50 mcg lithium per drop. I remember when the

bottled water products were first launched and I was incredulous that people

would pay for a product they could get for virtually nothing simply by turning

on their faucets. Now I drink reverse-osmosis water, which is essentially free

of trace elements (and toxic chemicals), and I take 500-mcg lithium daily by

adding lithium drops to my orange juice.

Cholesterol doses to treat SLOS

Doses of cholesterol used in therapeutic trials have varied from 20-300 mg/Kg

body weight/day. In some SLOS treatment studies, supplemental bile acids were

also incorporated into the diet. In early studies, 50 mg /Kg of pure crystalline

cholesterol was used and showed beneficial results. Other options for

cholesterol supplementation include use of egg yolk, whipping cream, and

butterfat. A single egg yolk contains about 250 mg of cholesterol. A 100-Kg

adult with SLOS would have to consume 40 egg yolks per day to consume enough

cholesterol to attain a dose of cholesterol of 100 mg/Kg per day. In addition,

organ meats--like liver and kidneys--are particularly rich in this compound. A 3

oz (85 g) serving of beef liver, for example, contains about 372 mg of

cholesterol. A similar portion of brain from animal sources has close to triple

this amount. In some of the treatment studies, patients with SLOS were dosed

with purified cholesterol supplements, instead of food sources.

Benefits of cholesterol feeding in SLOS

Kelley RT. Inborn errors of cholesterol biosynthesis. Adv Pediatric

2000;47 :1-53

a.. Beginning to walk

b.. Starting to run

c.. Growth improvement

d.. Less infections

e.. Less UV light sensitivity

f.. Increased alertness

g.. Head banging stops

h.. Decreased tactile defensiveness

i.. Increased sociability

j.. Behavior improves

k.. Talking has started in adults who were not talking before

l.. Verbal people say they feel better

m.. Many improvements in only a few days after supplement

n.. Decreased irritability

Cholesterol deficiency: common in regular ASD as well as in SLOS

Dr. Tierney and her colleagues involved in SLOS research wanted to determine if

cholesterol deficiency is also common in " ordinary " autism. They investigated

the incidence of cholesterol deficiency in blood samples from a group of

subjects with autism spectrum disorder (ASD) from families in which more than

one individual had ASD, but not SLOS. Using highly accurate gas

chromatography/mass spectrometry, cholesterol, 7-DHC and its related molecules

were quantified in 100 samples from subjects with ASD. Although no sample had

values consistent with SLOS, 19 samples (19%) had total cholesterol levels lower

than 100 mg/dl, values that are much lower than those found in normal children

of the same age. In addition, these researchers found that cholesterol was low,

not as a result of excessive breakdown, but because of reduced production.

This work was confirmed at The Great Plains Laboratory which performed

cholesterol testing on 40 children with autistic spectrum disorder (see

adjoining graph). In this study, as in Dr. 's study, extremely low

cholesterol values are defined as the lower fifth percentile of normal children

(less than 100 mg/dL) which was determined in a nationwide study of the Center

for Disease Control. The results of the two studies were similar, with The

Great Plains Laboratory percentage of extremely low values being 17.5% versus

19% of values being low for the Tierney study. In addition, 57.5% had

cholesterol values less than 160 mg/dL. NIH had concluded in 1990 from a

meta-analysis of 19 studies, that men and women (to a lesser extent) with a

total serum cholesterol level below 160 mg/dL. had approximately a 10% to 20%

increased death rate compared with those with a cholesterol level between 160 to

199 mg/dL. Specifically, people with these lower cholesterol levels were more

likely to die from cancer (primarily lung and blood), respiratory and digestive

disease, violent death (suicide and trauma), and hemorrhagic stroke. It is

interesting to note that in The Great Plains Laboratory study, only one child on

the autistic spectrum had an extremely high cholesterol level, with a value over

340 mg/dL.

The concept of " good " and " bad " for dietary substances depends on the

circumstances of the individual person. Much of the information that the public

receives is oversimplified. To a person dying of thirst in the desert, any water

is very good. To a person, who just drank two gallons of water on a dare,

another glass of water might be fatal. The concept of good and bad cholesterol

is similar to the water analogy.

The type of cholesterol that is associated with high density lipoproteins and

helps to remove cholesterol from certain tissues was termed " good cholesterol "

or HDL cholesterol (High Density Lipoprotein-associated cholesterol). The type

of cholesterol associated with low density lipoproteins and which transports

cholesterol to tissues that require it was designated as " bad cholesterol " or

LDL cholesterol (Low Density Lipoprotein-associated cholesterol). If, however,

the tissues of a certain person have a significant overall deficiency of needed

cholesterol, then both LDL and HDL cholesterol are good for that person.

Therefore, a purified cholesterol supplement cannot be inherently " good " or

" bad " and the body will distribute it to the locations where it is needed the

most. If the person has adequate amounts of cholesterol, however, no additional

supplementation would be needed.

Abnormalities in cholesterol metabolism present in SLOS and autism may also

impair the function of a developmental signaling protein with the bizarre name

" sonic hedgehog " . Sonic hedgehog (SHH) is named after the character from the

popular Sega Genesis video game. The original hedgehog gene was found in the

fruit fly Drosophila and was named for the appearance of the mutant fly

offspring in which the embryos are covered with pointy spines resembling a

hedgehog. The first two types of hedgehog proteins were named after certain

species of hedgehogs and the third was named after the video game character.

Cholesterol must covalently bond to SHH before SHH can function properly. In

addition, some forms of SHH have both cholesterol and the fatty acid palmitic

acid covalently attached to the protein. (Palmitic acid is required for the

production of a soluble Hedgehog protein complex and long-range signaling in

humans). The attachment of cholesterol activates the sonic hedgehog protein and

without adequate cholesterol, SHH protein function is impaired.

Benefits of cholesterol in the diet

Every day supplementation with high cholesterol foods, such as egg yolks, might

prove to be a useful therapy to try for a few months for children with autism

who have cholesterol values that are low (<160 mg/dL). Unfortunately egg

allergy is common in autism and may increase with a steady egg diet and

compliance may be difficult for children who dislike eggs. Although very high

blood serum cholesterol values are associated with heart disease, values that

are low (below 160 mg/dl) are associated with increased violent behavior,

suicide, depression, anxiety, bipolar disease, Parkinson's disease, and

increased mortality from cancer. Surprisingly, high cholesterol protects against

some infectious diseases like tuberculosis, which has been uncommon in the USA

since The Great Depression, during which there was a substantial lack of high

cholesterol foods because of financial hardship. Vegetarians have a much higher

incidence of tuberculosis than meat eaters. It is possible that the overemphasis

on a low cholesterol diet may also be associated with the recent marked increase

in cases of tuberculosis. Low cholesterol values are also associated with

manganese deficiency, celiac disease, hyperthyroidism, liver disease,

malabsorption, and malnutrition. Pregnant women with low cholesterol are twice

as likely to have premature babies or babies with small heads.

LDL cholesterol (so-called bad cholesterol) protects humans against infection.

Deadly staphylococcus bacteria produce endotoxins that have the ability to kill

human cells including red blood cells. LDL was found to protect human red blood

cells from this toxic effect of endotoxin while HDL was not protective. A study

at the University of Pittsburgh found that in young and middle aged men, those

that had LDL-cholesterol below 160 mg/dl had a significantly lower number (of

total and various types) of white blood cells than men with LDL-cholesterol

above 160 mg/l.

Functions of Sonic Hedgehog (SHH):

a.. Plays a central role in developmental patterning, especially of the

nervous system and the skeletal system.

b.. Important in the growth and differentiation of a variety of cell types,

including the development of T cells in the thymus.

c.. Purkinje neurons secrete SHH to sustain the division of granule neuron

precursors in the external granule layer in cerebral development. Abnormal

cerebellar development and especially purkinje cell development has been

associated with autism.

d.. As a transcription regulating protein, SHH alters which genes function at

a given time.

Testing for cholesterol, cholesterol transport proteins, and homocysteine

at

The Great Plains Laboratory

The Great Plains Laboratory has developed a special cholesterol related panel

that will help to determine whether cholesterol deficiency or abnormalities in

cholesterol transport are present. This panel will include the following

markers: Total cholesterol, apolipoprotein A-1, apolipoprotein B, Lipoprotein

(a), and homocysteine. Lipoproteins are involved in cholesterol, lipid, and

vitamin E transport.

Total cholesterol: Total cholesterol measures all types of cholesterol including

esterified and free. Low values (generally values less than 160 mg/dL) are

associated with genetic diseases of cholesterol metabolism such as SLOS,

Tangier's disease, and abetalipoproteinemia. Low values are more common in

hyperthyroidism, liver disease, malabsorption, malnutrition, autism, violent

behavior, celiac disease, anxiety, bipolar disease, alcoholism, lung cancer,

suicide, depression, and obesity associated with human adenovirus-36 infection.

In China, where mean cholesterol is much lower than in the Western world,

chronic hepatitis B virus infection is ubiquitous. Chronic carriers of hepatitis

B, but not individuals with eradicated hepatitis B, have significantly lower

total cholesterol than non-carriers, suggesting a cause-effect relationship.

High cholesterol values are associated with atherosclerosis.

Apolipoprotein A-I (Apo A-1): The main protein component of HDL (high density

lipoprotein). It accounts for approximately 65% of the total protein content of

HDL. Apo A-I activates lecithin cholesterol acyltransferase which catalyses the

esterification of cholesterol. The resulting esterified cholesterol can then be

transported to the liver, metabolized and excreted. Values of Apo A-I have been

shown to decrease during infection.

Apolipoprotein B (Apo : The main protein component of LDL (low density

lipoprotein). It accounts for approximately 95% of the total protein content of

LDL. Apolipoprotein B is necessary for the reaction with LDL receptors in the

liver and on cell walls and is thus involved in transporting cholesterol from

the liver to the cells. Recently the Mind Institute found that low values of Apo

B are associated with autism, with the lowest values being found in

low-functioning autism. LDL has found to have protective effects against

endotoxins from deadly staphylococcus.

Lipoprotein (a): Consists of two components, the low-density lipoprotein (LDL)

and a glycoprotein, which are linked by a disulfide bridge. High values have

been implicated as a risk factor for cardiovascular disease, Alzheimer's

disease,Crohn's disease, and rheumatoid arthritis. Low values have also been

found in those with autism who have higher doses of Apolipoprotein E epsilon-4

gene variants that are associated with increased risk of Alzheimer's disease.

Lipoprotein (a) is biochemically unrelated to Apolipoprotein A.

Homocysteine: A sulfur-containing amino acid that can be converted to methionine

by methionine synthetase or by betaine methyl transferase. The role of

homocysteine in atherosclerosis gained attention after finding massive

atherosclerosis in young people with the genetic disorder homocystinuria.

Methionine synthetase requires the folic acid derivative 5-methyl

tetrahydrofolate. Abnormally high values have been reported in stroke,

cardiovascular disease, and in Alzheimer's disease. Both low and high values

have been reported in autism.

All of the Great Plains testing for the cholesterol panel is done with

FDA-approved diagnostic laboratory reagents.

Why the brain needs cholesterol

a.. There is a direct correlation between the concentration of cholesterol in

the brain, particularly in the myelin, and how well the brain functions.

b.. The brain is the most cholesterol-rich organ in the body.

c.. In the central nervous system (CNS), essentially all (99.5%) cholesterol

is the free or unesterified form (unattached to fatty acids).

d.. The majority (70%) of cholesterol present in the CNS is believed to reside

in the myelin (the material that insulates the nerve fibers) sheaths and the

plasma membranes of astrocytes (brain support cells) and neurons.

e.. Half of the white matter, which contains the nerve axons that allow for

transmission of brain signals, may be composed of cholesterol-rich myelin.

New Beginnings Nutritionals would like to announce a new and unique

product called Sonic Cholesterol - a pure and potent nutritional supplement

designed to correct cholesterol deficiency. Sonic Cholesterol is an ideal

supplement solution for children and adults who have both low to low normal

cholesterol levels along with a strong dislike for - or allergy to - eggs.

- Each capsule contains 250 mg of pure medical grade cholesterol

- Each 250 mg dose provides the same amount of cholesterol as one

egg

- Cholesterol is carefully extracted from raw sheep wool

- Tested to show undetectable levels of heavy metals and other toxic

chemicals

- Available only as a " Physician Referred " supplement

- Regular cholesterol testing is advised to monitor cholesterol

levels

These statements have not been evaluated by the FDA.

This product is not intended to diagnose, treat, cure, or prevent

any disease.

New Beginnings Nutritionals Toll Free: (877) 575-2467

www.nbnus.com

ina's story and cholesterol

By Dr. Shaw

The cholesterol story really made an impact on me because of my stepdaughter

ina, a delightful 18-year old girl with severe autism. Biomedical treatment

including GF/CF diet, antifungal therapy, control of Clostridia, and heavy metal

chelation had been successful in controlling severe hyperactivity, abnormal

sleep patterns, and self-abusive behavior. However, ina still had very

little use of the hands, had lost all speech at the age of four, and had a

physical abnormality in which her fourth toe was much smaller than the fifth.

All of these symptoms led to her diagnosis of the genetic disease Rett's

syndrome at the local children's hospital, but her DNA test was inconsistent

with Rett's.

ina was always energetic and would sometimes burst into a run when going for

a walk. At the beginning of the school year, we were receiving unfavorable

school reports (which were unusual) indicating that she was losing interest in

participating in school activities and was becoming increasingly withdrawn. She

was even falling asleep in class after a full night's sleep. At home, she was

becoming more and more withdrawn as well and overall, more " autistic " . The notes

from school became more and more disturbing and ina was obviously not the

same happy person that she used to be. She began wanting to go to bed earlier

and earlier until she was going to sleep immediately after arriving home at 3:00

pm. Even after sleeping 15 hours at night, she was still falling asleep in

school. Thyroid tests, an obvious abnormality associated with low energy, were

normal.

One morning my wife burst into tears at the breakfast table and sobbed to me: " I

think ina is dying " .

I decided to review all of ina's test results and treatments but the only

thing I could find was the egg allergy. " When did you take the eggs out of

ina's diet? " I asked my wife. " At the beginning of the school year " she

responded. That was exactly the timeframe when we started getting the

unfavorable reports from the school noticing her regression. I realized it was

the eggs! The lack of eggs and cholesterol! ina has cholesterol deficiency

and we needed to give her eggs again. " (Please note that ina had IgG egg

allergy. A child with IgE egg allergy might have an anaphylactic reaction to

eggs and should not get eggs at all).ina's cholesterol was 142 mg/dL, a very

low value.

Within a few days of giving two eggs for breakfast every day, the smiling,

happy, alert, and energetic (but still autistic) ina had returned. Once

again, she was smiling, full of energy, and difficult to get into bed before 11

pm in the evening. Glowing reports from the teacher became common again. Even

though the eggs upset her stomach as a result of the allergy, the cholesterol

from the eggs had proven to be essential for her well-being. After six months on

the egg-enriched diet, ina's cholesterol had increased to 157 mg/dL,

indicating how slowly cholesterol increases. With the arrival of the purified

cholesterol supplement from New Beginnings Nutritionals, we are now able to give

her the much needed cholesterol her body needs without giving her eggs.

References

Cholesterol references

1. E Tierney, I Bukelis, R , K Ahmed, A Aneja, L Kratz, and R Kelley

Abnormalities of Cholesterol Metabolism in Autism Spectrum Disorders. American

Journal of Medical Genetics Part B (Neuropsychiatric Genetics) 141B:666-668

(2006)

2. Tierney E, Nwokoro NA, Kelley RI Behavioral phenotype of

RSH/-Lemli-Opitz syndrome. Ment Retard Dev Disabil Res Rev 2000;6(2):131-4

3. Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD. The near

universal presence of autism spectrum disorders in children with

-Lemli-Opitz syndrome. Am J Med Genet A. 2006 Jul 15;140(14):1511-8.

4. Modai I et al. Serum cholesterol levels and suicidal tendencies in

psychiatric inpatients. J Clin Psychiatry. 1994 Jun;55(6):252-4.

5. Cassidy F, Carroll BJ. Hypocholesterolemia during mixed manic episodes. Eur

Arch Psychiatry Clin Neurosci. 2002 Jun;252(3):110-4.

6. -Guzman C, Vargas, MH, Quinonez, F, et al. A cholesterol-rich diet

accelerates bacteriologic sterilization in pulmonary tuberculosis. Chest 2005;

127: 643-651.

7. Glueck CJ, et al Hypocholesterolemia, hypertriglyceridemia, suicide, and

suicide ideation in children hospitalized for psychiatric diseases. Pediatr Res.

1994 May;35(5):602-10.

8. 17:00 22 January 2007, NewScientist.com news service, Aria Pearson,

http://www.newscientist.com/article/dn11005-protecting-fetuses-from-mothers-who-\

drink.html.

Lithium references

1. GJ, et al. Lithium-induced increase in human brain grey matter. Lancet.

2000 Oct 7; 356(9237): 1241-2.

2. Schrauzer GN. Lithium: occurrence, dietary intakes, nutritional

essentiality. J Am Coll Nutr. 2002 Feb;21(1):14-21.

3. Schrauzer G.N., Shrestha K.P., -Arce M.P. Lithium in scalp hair of

adults, students and violent criminals. Effects of supplementation and evidence

for interactions of lithium with Vitamin B and other trace elements. Biological

Trace Element Research, 1992 Aug 34 (2): 161 - 76

4. J.B. , C.E. Holloway, F. , D. Quig. Analyses of toxic metals and

essential minerals in the hair of Arizona children with autism and associated

conditions, and their mothers Biological Trace Element Research 110: 193-209,

2006.

DEFICIENT CHOLESTEROL A COMMON NEW FACTOR IN AUTISM

Copyright © 2007 " The Great Plains Laboratory "