[Ketogenic] Early-onset Absence Seizures Associated with Glut 1

[KarenB]

http://www.epilepsy.com/epilepsy/ke...f00c0d-Epilepsy_News_2_13_13&utm_medium=email

Study in Australia found that 13% of children who presented with absence seizures before age 4 had the genetic markers for GLUT-1. GLUT-1 is associated with severe epilepsy, physical disabilities, and developmental delay.

The treatment of choice for GLUT-1 is the Ketogenic Diet, but Johns Hopkins has found other types of absence seizure also respond very well to the diet.

This article also focuses on the Ketogenic diet versus intermittent fasting (skipping 2 meals a day for 2 days a week). Animals studies have revealed that intermittent fasting also produces good seizure control. So, now, Johns Hopkins is experimenting with using intermittent fasting with kids already on the Ketogenic diet.

 

[Nakamova]

Yeah, before pharmaceutical cures became the default, fasting/diet was a known way to treat epilepsy. See http://www.medmerits.com/index.php/article/ketogenic_diet_in_the_treatment_of_epilepsy/P1
It's good that the studies are being done to bring these kinds of approaches back into the mainstream.

 

[KarenB]

The article above mentioned the advisability of doing genetic testing for GLUT-1 in infants and small children with absence seizures.

Personally, even though expensive, I think such testing would be worthwhile - especially since there is a 13% incidence of GLUT-1 in babies and toddlers with absence seizures. This disease may not be as rare as thought. It may be that children with this type of epilepsy are being misdiagnosed with Cerebral Palsy.

The earlier the diagnosis the better, because then the child can initiate the Ketogenic Diet and prevent further harm to the brain and body. The GLUT-1 transporter moves glucose into the brain. When there is a deficiency of GLUT-1, the brain is not able to absorb and use glucose, and is starved of energy. This results in seizures, small brain and head size, cerebral palsy like symptoms (tense muscles), and intellectual and developmental impairment.

The Ketogenic diet changes the fuel source for the brain from glucose to ketones (from fat and protein). This is the ONLY remedy for children with this disease.

 

[epileric]

Personally, even though expensive, I think such testing would be worthwhile

The tests are rather preliminary so I don't know about that. It even says right in your link

Unfortunately, few in this study and others by this group were then tried on the ketogenic diet, so how they would do is unknown. Our group at Johns Hopkins has found that children with absence (early or more classic age of onset) do well on ketogenic diets, so as a result of this study we are now screening more of our difficult-to-control absence epilepsy patients for Glut-1. These results are very interesting, but do NOT mean that all epilepsy patients should be screened for Glut-1 at this time.

The 2nd study was done on only 6 children and was not done with medical supervision. Also, it showed that it was the fasting with the ketogenic diet that worked the best.

What these results show is that fasting is indeed likely different than the ketogenic diet and may be a way to improve seizure control for children with epilepsy. Beyond using it in children already on the ketogenic diet, it would be interesting to try it with medical supervision in children not on dietary therapy but dealing with refractory epilepsy. Different ways to intermittently fast may also lead to future better results. Regardless, it is another good example of basic and clinical ketogenic diet scientists learning from each other to help children.

Also I saw no reference to children being misdiagnosed with CP anywhere? Did I miss it?

 

[KarenB]

No, certainly not ALL epilepsy patients should be tested, but most certainly children under the age of 4 with absence seizures. The testing itself if NOT preliminary -- there is a standard protocol for testing children suspected of having GLUT-1 deficiency -- a lumbar puncture is done, and if it reveals lower than usual glucose and lactase levels, then the genetic testing is done.
http://www.g1dfoundation.org/about-2/what-is-glut1-deficiency/

The alternative is to wait until the child begins to exhibit other symptoms such as motor impairment or cognitive delay that get progressively worse, or until the seizures get really horrible. By then, the damage done to the child's brain that has been starved for YEARS would probably be irreversable. At that point, treatment with the Ketogenic diet could prevent further damage, but the damage already done is probably there to stay.

Our son had a classmate at school with this malady, and by time she was diagnosed, this beautiful girl had become severely disabled in all areas -- she was eventually put on the Ketogenic diet (but by then she was well into her school years), which stopped the seizures, but didn't produce a miracle in other areas -- it was too late to undo years of damage to her brain.

Therefore, if this study indicates that 13% of babies and tots with absence seizures have GLUT-1 deficiency, then by all means, test those little babes before their brain wastes away and they become permanently disabled.

When children with GLUT-1 deficiency have seizures, NO medication works for them, because the cause of the seizures is brain starvation, and no med fixes that.

****
As far as the intermittent fasting -- yes, that's still in the developmental stages, but it's worth keeping an eye on. It might be worthwhile giving a try. My only concern would be people with unstable blood sugar might do worse on a regime like this.

 

[KarenB]

I didn't say children were possibly being misdiagnosed with complex partial, but with Cerebral Palsy (maybe you put CP in there and the little fairies that live in here changed it). My son's classmate with GLUT-1 deficiency had the spastic muscles that you see in kids with Cerebral Palsy. This little girl had obviously been misdiagnosed for years, as she wasn't correctly diagnosed until she was an older child (and even then, it was some time before she got on the Ketogenic diet).

Oh, the 6 kids at Johns Hopkins that were put on the intermittent fasting WERE under medical supervision -- I think you read that wrong, Epileric. The article said they were already on the Ketogenic diet, and hadn't been responding well, so their team at Johns Hopkins tried out the intermittent fasting -- obviously they would have been under medical supervison if the hospital put them on the regime and keep track of the results. Results good in beginning, but most of the kids relapsed.

What he said was that he would like to try the intermittent fasting therapy with medical supervision with kids NOT on the ketogenic diet that had intractible seizures.

But...remember that these 6 kids were probably the worst of the worse -- most kids have usually already failed 2 to 6 meds before initiating the diet, and then the diet was not providing satisfactory seizure control (or they had relapsed) with these 6 kids. So...it seems that it did (initially) help 4 out of 6 kids, but the results didn't last.

Obviously more study needs to be done. Perhaps tweaking the way the intermittent fasting is done to provide long-term success. Or...doing a study (as mentioned) on kids not on the ketogenic diet (this would reveal if it were simply improving ketone levels or whether something else was afoot). And, it might be even better to give this regime a try with adults -- the ketogenic diet is problematic for a lot of adults because of the high fat -- but intermittent fasting would probably only be an issue with those who have blood sugar problems.

 

[KarenB]

This article has more information on the 2 studies on intermittent fasting (one with mice comparing the ketogenic diet to the intermittent fasting, and one with 6 children where intermittent fasting was added TO the ketogenic diet)
http://www.sciencedaily.com/releases/2012/12/121206203122.htm

 

[epileric]

The testing itself if NOT preliminary

Sorry, when I said testing I meant the studies themselves were preliminary

 

[Ruth]

I looked it up!! It is a study about children on a High-fat low carb diet.

A high fat diet is not healthy in my opinion. It can raise blood pressure, triglycerides put on a lot of fat.

I am on a low fat medium carb diet. That works for me. I am on the Glycemic Index Diet.

Thank you for doing the research.

 

[Cint]

I looked it up!! It is a study about children on a High-fat low carb diet.

A high fat diet is not healthy in my opinion. It can raise blood pressure, triglycerides put on a lot of fat.

I am on a low fat medium carb diet. That works for me. I am on the Glycemic Index Diet.

I did too. Like you said, the study is about children on the ketogenic diet. The ketogenic diet is not healthy for adults. From what I've read it is used most to control drop or atonic seizures in children by reducing the consumption of carbs and fluid intake. In response to this fasting state, your body metabolizes fat for energy and in the process, produces ketones. In certain cases, ketones can have an anticonvulsant effect on your brain, reducing seizure activity.

But for folks like me who also have diabetes, high levels of ketones mean there isn't enough insulin to fuel my body and I could pass out or worse, go into a coma and die. So I watch my carbs carefully, but would never completely fast. I could die if I were to do that.

 

[KarenB]

I believe the intermittent fasting they did with the kids was skipping 2 meals twice a week.

Ruth, my son has been on the Ketogenic diet for 2 years. Yes, it is high fat, but we try to use "healthy" fats as much as possible -- olive oil, avocado, flaxseed, etc. For him, it is much healthier than the seizure meds (most of which didn't work) which damaged his liver and pancreas, gave him loss of speech, aggressive behavior, hyperactivity, etc.

His cholesterol levels and triglycerides are excellent. The only health issue the diet has caused is that when combined with the medication Zonegran, we have to be alert to bicarb levels to avert acidosis. The diet has worked far better than most medications to control his seizures.

As Cint pointed out, the Ketogenic diet is mostly used for children because of the dangers of high fat to adults (although a Modified Atkins is now being used at Johns Hopkins and other medical centers for adults with seizures). But I feel that this intermittent fasting (while remaining on a normal diet) might have great potential for adults with seizures. Of course, Cint wouldn't be able to do it because of diabetes, but for a lot of adults, it might be a key treatment.

 

[KarenB]

BTW, the Ketogenic diet treats all types of seizures. Our son has tonic clonics and tonic seizures, and the diet gave him complete seizure freedom for a year. He has temporal lobe epilepsy, which is very difficult to treat.

Many dreadful childhood epilepsies (Dravet Syndrome, Lennox Gastault, GLUT-1 deficiency, Doose, West Syndrome, etc.) that normally do not respond well to medication have a 50 to 90% cure rate with the Ketogenic diet. Some children are able to come off the diet after being seizure free for 2 years.

 

[Dutch mom]

Ketogenic diet an unhealthy diet? Not for my son.

There are many predjudices here about the keto diet...

My son has Lennox Gastaut syndrome with severe mental retardation, absence seizures, tonics, clonics, tonic-clonics, myoclonics, atonics, and complex partial seizues.

He has had more than 10 seizure medicines in several combinations as polytherapy with no other result but nasty side effects. His epilepsy was declared med resistant at age 4. So we weaned off all meds and decided to try the ketogenic diet.

He is on the keto diet diet for 8.5 years now, since age 5, with as a result >90% seizure reduction and a >70% improved EEG within 6 months since the initiation of the diet. Before the keto diet he had hundreds of seizures each day and his EEG was 99% disturbed 24/7.

The diet seems to be not unhealthy to him even after 8.5 years. We do use mainly unsaturized healthy fats in our sons meals such as oils (omega and more), mayonaise, fish and avocado. We rarely use saturized fats like cream and butter.

He is on a ratio 4:1 classical ketogenic meaning he gets 90% fats in his meals and less than 3 gramms carbs per meal. His meals are stricktly restricted on calories.

But fluids are not restricted at all as long as they are not sweetened with sugar of artificial sweetners ending on - ol or - ose and have less then 1 calorie.

Each 6 months he gets a physical check up by his peditritian, his blood is tested for cholestrol and tryclycerines and each test has been okay so far. His growth is excellent within a normal growth curve.

He gets a balanced set of multivitamnes, calcium, extra vitamine D and carnitine each day and he eats no sugar at all.

I am positive my ketokid is more balanced and healthy as it comes to vitamines compered to my other two kids who do eat normal meals and do get their part of sweet lemonade, snacks and candy.

The only long term side effect of the diet my son has, is constipation.

 

[KarenB]

So good to hear of your son's fine progress!