Ketogenic Diet for NBIA (Neurodegeneration with Brain Iron Accumulation)

It’s always a pleasure to hear from readers who report improved health.

Some of these emails are poignant: distressing because of the pain of their diseases, yet heartening because of the improvements a good diet brings.

It can’t get more poignant than to hear that children with a painful, deadly, and untreatable disease have, thanks to diet, begun smiling, laughing, and getting better.

Last week Kindy Flyvholm, who bought our pre-publication e-book, wrote with just such a report. I’m delighted to be able to pass it on, and hopeful that this report will help other children escape unnecessary suffering and enjoy life more abundantly. Thank you, Kindy, for sharing your story!

Ketogenic diets as therapy for neurological dysfunction

In our book and on this blog, we advise everyone with a neurological or brain disorder to try a ketogenic (“ketone generating”) diet. The book spells out how to tweak the Perfect Health Diet to make it ketogenic: basically, reduce carbs and add copious amounts of coconut oil.

Ketogenic diets can be surprisingly helpful with brain and nerve dysfunctions. The reason is that neurons have very limited metabolic options: they can burn only glucose or ketones. Glucose metabolism is complex and prone to failure; ketone metabolism is simple and robust. Especially in disease states, a neuron on glucose can be a totally different creature from a neuron on ketones. Neurological diseases that are disastrous on a glucose-rich diet can become mild when neurons are fed ketones.

It doesn’t work for every brain disease, in part because ketones don’t diffuse through the brain all that well. Ketones reach the subcortical and inner cortical layers of the brain easily, but don’t readily reach superficial layers. [1] However, in some diseases the places reached by ketones are the ones in trouble. The evolutionarily oldest parts of the brain, such as the brain stem, are the most likely to benefit from a ketogenic diet. Thus, neurodegenerative diseases that cripple the body may be top candidates for a therapeutic ketogenic diet.

NBIA (Neurodegeneration with Brain Iron Accumulation)

One such disease is NBIA, short for Neurodegeneration with Brain Iron Accumulation. NBIA is most commonly caused by a mutation in the gene PANK2, which codes for the mitochondrial enzyme that converts vitamin B5 (pantothenic acid) into CoenzymeA (a crucial metabolic substrate). This version of NBIA is called PKAN, for pantothenate kinase-associated neurodegeneration.

NBIA/PKAN is characterized by an accumulation of iron in the basal ganglia of the brain. The iron is readily visible in brain MRIs, producing an “eye of the tiger” brightness pattern. [2] It produces symptoms that overlap with those of Parkinson’s disease. [3] About 1 in 500 people carries a PANK2 mutation, so some form of the disease strikes 1 in 250,000 people.

The disease typically first presents itself about age 3, when leg dystonia and spasticity causes an impaired gait, sometimes including toe-walking. The disease progresses and children lose the ability to walk. Dystonia extends to the hands and the face; the head cannot be held upright, and swallowing becomes difficult. Blindness from retinopathy and hearing loss often develop. Premature death occurs usually in the teens, often by age 10 or younger. The last years are excruciatingly painful.

Here is a picture of Zach, age 12:

You can see his inability to hold his head upright, and the hand position characteristic of dystonia. Zach cannot swallow naturally and has to be tube-fed.

The bumps in his chest are from the battery packs used to drive a deep brain stimulation device. The idea is to introduce signals that counter the excruciatingly painful dystonic spasms. Like other therapies for NBIA, deep brain stimulation is often ineffective. In Zach’s case, the device worked for less than one month. It is now turned off but is not removed because the operation would be too traumatic.

Ketogenic Diet Therapy

Kindy writes:

It was in desperation that we began researching options (ANY OPTION) to prevent the horrible pain that precedes death especially in the case of children with early-onset NBIA.

Many research paths led to the ketogenic diet being an option.  A lot of discouraging information was presented as well (like how impossible it is to follow or how disruptive it is to family life, etc).

It’s remarkable, but doctors are so divorced from dietary science that they do not know how simple and natural a ketogenic diet can be, and assume that only absurdly onerous formulations are needed. As we point out in the book, a large fraction of mammals eat ketogenic diets as their natural diet; and all mammals including humans subsist on ketones during starvation.

Doctors were pessimistic about its chances, but a ketogenic diet produced amazing results:

My son, who is 6, … has been on the diet for less than one month and his hands have relaxed enough for him to regain his pointing ability (which had been lost).

Zach, the 12 year old on the diet, is much further progressed in the disease.  Zach has been on the diet since late October, 2010, reaching 80% fat levels towards mid-December.  The following are the improvements that have been noted by Zach’s family and therapists:  Zach has begun holding up his head even though his neck has been hyper extended backwards since he was 9, he has begun pointing with his finger again instead of the palm of his hand, he is moving his right arm again some, and the latest thing is that he is now able to go from a laying position to a sitting position on his own by hanging on to something or someone.  He has not done this since he was 9 years old.

Both boys have begun smiling and laughing all the time.

I know just how they feel!

The previous picture was Zach before starting the ketogenic diet. Here he is on the diet:

Kindy continues:

Zach has gotten off all pain medicine and only has a small amount of 3 [anti-spasmodic] medicines left which hopefully he can get off of over the next year.

Going in and out of ketosis has immediate effects, as this anecdote shows:

Zach had a recent day where his muscle spasms returned severely.   Bad enough he needed to go to the hospital for morphine.  At the last minute (before going to the hospital), the parent looked at her recipe for that day and realized she had used a lot of white chicken meat.  She added in some more coconut oil into his next few tube feedings and the spasms went away immediately.  This is extremely powerful.

Kindy concludes:

We are not under any delusions.  Our children may be taken from us at any time.  If they are taken pain free, then we are blessed compared to the alternative.  The situation thus far with our ‘experiment’ has proven much more than we could have hoped.

Conclusion

Kindy, it’s wonderful that your research and perseverance has bought hope to your son, and that you’re spreading the word to help others find the same hope. I’m so grateful that you’ve shared your story with us. Hopefully your experiences will reach the NBIA community, save children from unnecessary pain, and maybe extend their lives significantly!

We salute every parent who has to deal with neurological and genetic diseases in their children. As this disease illustrates, anyone with a neurological disorder should experiment with a ketogenic diet. Ketogenic diets have been tested in very few diseases, and there is no telling how many neurological diseases may prove amenable to this therapy. But there is already considerable evidence that neurological diseases of the elderly, such as Alzheimer’s and Parkinson’s, are treatable with a ketogenic diet.

Last Thursday, I defended the idea of a healthy diet as the best therapy for disease (“Therapy AND Life”). The NBIA kids illustrate just how powerful dietary therapies can be.

Medical doctors seem to have great misapprehensions and fear of experimenting with this diet. They do not understand it, don’t know how it should be implemented, and have never tried it themselves. Many of the medical ketogenic diets are malnourishing and generate terrible side effects. Not surprisingly, many patients quit the diets.

This coming Thursday, I’ll discuss how to implement a safe, healthy, and pleasurable-to-eat ketogenic diet. There’s no reason for an unpalatable or malnourishing diet to stop patients from enjoying the benefits that Zach has seen!

References

[1] Hawkins RA, Biebuyck JF. Ketone bodies are selectively used by individual brain regions. Science. 1979 Jul 20;205(4403):325-7. http://pmid.us/451608.

[2] Gregory AM, Hayflick SJ. Neurodegeneration with brain Iron Accumulation. Orphanet Encyclopedia, September 2004. http://www.orpha.net/data/patho/GB/uk-NBIA.pdf.

[3] Klein C et al. Hereditary parkinsonism: Parkinson disease look-alikes–an algorithm for clinicians to “PARK” genes and beyond. Mov Disord. 2009 Oct 30;24(14):2042-58. http://pmid.us/19735092. Paisán-Ruiz C et al. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord. 2010 Sep 15;25(12):1791-800. http://pmid.us/20669327.

Leave a comment ?

62 Comments.

  1. Wow, very inspiring.

    Did you see this vid posted by cheeseslave about autism improvements on the GAPS diet?

    http://www.cheeseslave.com/2011/02/16/autism-recovery-with-the-gaps-diet-one-mothers-story/

  2. Hi Todd,

    I did see that and was planning to link to it on Saturday.

    Diet should always be the first therapy! It works!

  3. That smile is worth the price of admission. What a wonderful picture. Go for it Zach!

  4. Paul says: This coming Thursday, I’ll discuss how to implement a safe, healthy, and pleasurable-to-eat ketogenic diet.

    I look forward to that (and the lemon report). Can you also explain the MCT oil option that you list in the Supplement Recommendations. Are there any advantages, or more likely (I think) disadvantages to using the MCT oils.

  5. Hi Gary,

    Coconut oil is 58% MCTs, 42% long-chain fats that aren’t nearly as ketogenic. Buying the purified MCTs gets the same ketosis for fewer calories. So you can be ketogenic while having less difficulty fitting between the extremes of (a) malnourishment from not enough regular food and (b) gaining weight from too many calories.

    So, for people trying to lose weight, or who aren’t very active, MCTs can be preferable to coconut oil. However, MCTs don’t taste as good as coconut oil.

    Best, Paul

  6. Many doctors who have the courage to try a ketogenic diet prescribe Ketocal- a ready to go powder. Here are the ingredients:

    “Hydrogenated Soybean Oil, Dry Whole Milk, Refined Soybean Oil, Soy Lecithin, Corn Syrup Solids, et al”

    You might as well hold a gun to the head of the child and pull the trigger.

  7. I remember, as a teenager, a little girl in our church nursery. She was fed butter on a very specific schedule, was denied anything with too much protein (such as chicken or tuna) and would get a small daily ration of something like cheerios or other “treat” foods. The prescribed ketogenic diet worked wonders to control her severe epilepsy, but I’m now wondering how much trouble her mother could have saved the family by feeding whole foods. Inducing ketosis isn’t a very difficult process – dozens of diets do it on varying levels. Is it possible that not all neurological conditions require the same stringent level of ketosis as usually prescribed by “medical professionals”? I know, for myself, simply limiting carbs to less than 50 grams per day and remaining gluten free eliminates migraines.

    On a different note, those videos from Cheese Slave were unbelievably inspiring. Is there any research or anecdotes ADD/ADHD?

  8. A good topic, Paul. You may remember I posted a while back about a strange anhedonia/anxiety/cognitive decline I have experienced over the last decade after a serious head injury and a lot of drugs/booze.

    I’ve been doing PHD for about 7 weeks now, and tried a ketogenic fast this past weekend. I ended up going 33 hours with some coconut oil and cream. It was a bit tough having to eat a bunch of oil on an empty stomach, but nothing too bad.

    I can’t say there was any improvement cognitively or with anhedonia, but there seemed to me to be a pronounced calming effect after about 24 hours of fasting. I often stutter or stumble over words (again, for about 10 years now), which usually goes away only with two or three alcoholic drinks. But the speech problems stopped almost completely during the fast, which makes me thing that there is some link to anxiety and stuttering.

    After the fast, I googled about ketogenic diets and found some sources saying they increase GABA while decreasing glutamate in the brain. Maybe a placebo effect, but that accords with what I experienced. I have had small doses of Xanax before, and the calmness I experienced during the second half of the fast was almost as “powerful” as the Xanax-induced kid.

    Anyway, that’s my story. If I’m the judge, you seem to be on to something! Looking forward to your next post.

  9. Jake – You’re helping me write Thursday’s post! Thanks!

    Becky – Yes, that’s another topic for Thursday. Many epileptic children do fine on mildly ketogenic diets like the modified Atkins diet. Another factor is that ketosis seems to initiate lasting changes, so that many people can do fine on mildly ketogenic diets if they just to a stringent ketogenic fast for a short time.

    I’d have to research on ADHD – I think there’s something in my notes – but I’m pretty sure the ketogenic diet will be helpful for that too!

    Hi Thomas,

    I’m glad you’re improving!

    Yes, I’ve written about how ketogenic diets reduce glutamate levels. Check out the “ketogenic diets” category, I have citations to that effect in several posts.

    Ketogenic diets have multiple mechanisms of neuroprotection! This is why experimentation is so important.

    Best, Paul

  10. That’s so fabulous – a different boy!

  11. Paul, Thank you for such a fantastically well written story about our kids. You have a great communication style.

    I agree that something about the diet induces a calm, tranquil feeling as we can see it in both the boys. On other days, they are absolutely giddy – like little giggle boxes. It is so fantastic to see this calm and happy behavior when before they were so frustrated (out of pain, an inability to communicate, and ?) constantly.

    Zach is tube fed. Mathias is still eating by mouth. Both families prepare whole, natural foods for the diet – no preparations. It takes a little getting used to but it is certainly not difficult. A typical day for Mathias looks something like:

    Breakfast: Scrambled eggs with heavy cream, cooked in coconut oil. Bacon. Hot chocolate (1/2 cup whipping cream, cocoa, one drop of Stevia)

    Lunch: Lunch meat rolled around cream cheese, olives, feta cheese, tomato, cucumber, flax bread with cheese and meat (and slathered in butter first)

    Snack: Greek yogurt (10%) mixed with coconut oil

    Dinner: 2 pieces of Low carb pizza (homemade from Linda’s Low carb deep dish pizza recipe), avocado, custard (made with whipping cream, coconut oil, and eggs)

    Neither boy eats low calorie. Mathias eats about 2000 to 2500 calories per day. Zach eats about 3500 – 4000 calories per day. Yet they are both in a high level of ketosis 9 our 10 days. Obviously their metabolisms are high because of their disease but my point is that low calorie wasn’t necessary for ketosis.

    Before we try drugs of any kind, why isn’t diet the obvious first choice therapy? You wouldn’t believe how difficult it is to get a doctor to accept that trying a diet is the way to go. Thank goodness we’ve managed and the results, so far, are just wonderful. All the smiles and laughter are worth it!

    Thank you again Paul for the great post and for the continually information website!

    Kindy

  12. anand srivastava

    Thanks Paul.
    Its a wonderful article.

  13. Hi Kindy,

    Thank you so much, I’m glad we found each other! I notice this post is now on the first page of Google searches for NBIA PKAN, so hopefully other parents will find out about your experiences!

    You know I agree that diet should almost always be the therapy of first choice!

    Best, Paul

  14. “I’d have to research on ADHD – I think there’s something in my notes – but I’m pretty sure the ketogenic diet will be helpful for that too!”

    Thanks, Paul! You definitely get a lot of requests for research on here. 😛

    We have 4 mini-people of our own (all on a Paleo-style diet with no *abnormal* behavioral issues HUZZAH!), but I’m curious for an acquaintance. They’ve been discussing “picky” eating lately, and were concerned about the usual methods because the child MUST take his ADHD meds on a full stomach. They more or less have to give in to the picky eating to accommodate the meds!

    It’s concerning to me that a child so young (he’s preschool aged) is on such heavy-duty medications. Like Kindy said so well, diets should be the first course of treatment for little ones, not poorly-understood brain-altering medications.

  15. wow, that is an amazing story. i am speechless!

  16. Wow that is truly an amazing story, I sure hope the medical profession will catch up soon.

  17. I know this is an older topic but I recently got a concussion and was wondering if you thought or have come across research that indicates a ketogenic diet might help the brain heal faster or better. I’m currently doing the regular version of PHD. Thanks!

  18. I saw a post about the GAPS diet. I would definitely check into it.
    I know of many diseases that have improved on such diets.
    Natasha Campbell-McBride is the premier specialist that knows GAPS but there are others in this country. DOn’t be afraid to check it out. It is NOT as hard as one thinks.
    http://gapsdiet.com/

    Altering the body’s biochemistry through nutrition is the main therapy for Many diseases and western MDs have very little experience with this. DOn’t listen to the “there is no evidence” as there is plenty of “evidence” just not in their journals.

  19. Hi Cara,

    GAPS is a good approach to gut problems. Thanks.

  20. Hello Paul,

    What do you think about using ketogenic diet in a case of friedreich’s ataxia? Can it do any harm?

    thank you very much…

  21. Hi Assaf,

    I think it would be helpful. Iron is involved in glucose transport, not ketone metabolism, so a ketogenic diet should reduce iron accumulation in mitochondria.

    If you try it, let me know how things go!

    Best, Paul

  22. Hi-
    I love this story so much. I was wondering if anyone could point me towards a website or resource for whole food ketogenic diet recipes. All I keep running into is KetoCal and corn/vegetable/soy etc oils.
    Kindy, thank you for your ideas…the hot cocoa, eggs in coconut oil, cream cheese and lunch meat are great starts.

  23. Hi Carrie,

    Just eat our regular diet, but add MCT oil and reduce carbs. Coconut oil is 58% MCT oil, coconut milk almost 50%, so those are good “food” choices; but you can buy MCT oil on Amazon. Everything else is similar – you want the diet to be well nourishing.

    Best, Paul

  24. Hi Paul,
    I recently purchased the PHD and am absolutely enthralled thus far — I can’t put it down. Thanks for such a great book. I have been diagnosed with focal dystonia. After reading the section about the ketogenic diet as therapy for neurological dysfunction, I wonder have there been other cases/success stories of recovery from dystonia using this specific protocol?

    Thanks!

  25. Hello Paul;

    I’m going to order your book with the intention to enter into a ketone diet. I have a genetically uncharacterized neurodegenerative disease called cerebellar ataxia/ degeneration. Coordination and gait are compromised. I would like to know if you have any experience investigatng cerebellar disorders and ketosis.

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  27. Hi Paul,

    I hope you’ll excuse me commenting in an older topic, but this is the only one in the “Parkinson’s” category.

    You mention above: “But there is already considerable evidence that neurological diseases of the elderly, such as Alzheimer’s and Parkinson’s, are treatable with a ketogenic diet.” Can you give any links? What are your latest thoughts on this?

    My friend’s mother has Parkinson’s. I’ve recently started PHD myself and keep in thinking that a ketogenic diet could be relevant for her, but I think she may think the diet’s a bit eccentric since I doubt she’s even heard of Paleo before. A bit of evidence or even a journalistic article might go a long way towards persuading her to give it a go! I’ve not made much progress in finding anything myself though, apart from a single paper with 6 patients from 2005.

    Thanks so much for your time, your blog and book are transforming a lot of lives!

  28. Hi Paul,
    I’m thinking about trying the ketogenic diet. Are fruits such as apples, pears, bananas, and raisins allowed in moderation? What about berries?

    Thanks!

    • Hi Rob,

      In general, on a ketogenic diet you want to avoid fructose because it depletes ATP from the liver which reduces ketone production. Starches like white rice or white potato are better sources of carbs; lower calorie vegetables like tomatoes are better sources of fiber and nutrients. Berries can be eaten if they’re not too sweet, but they tend to make the diet less ketogenic.

  29. Very inspiring.I wonder , how he is now. the article was written in 2011.it’s now 2013. 2years has passed. is the dystonia all gone?

    • Hi Mike,

      Last I heard (last fall) the younger one was doing well, but Zach was having severe problems due to the implanted device which forced him to have surgery to remove it, but unfortunately that surgery led to brain swelling and an extended hospital stay.

  30. Dear Paul,
    I am exploring the PHD version of ways to implement a ketogenic diet to address dystonia, but I became concerned when I read in one of your blogs that there could be a downside. You wrote that “Permanent ketosis may promote fungal infections.” How long is it safe to be on this particular diet? Hypothetically, if my condition improves do I discontinue the diet and go back to the conventional PHD diet or can a healthful low-carb ketogenic diet be maintained indefinitely?
    Thank you!

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  32. Hi Paul,
    Just wondering if you have any further advice on the treatment of Freidreich’s Ataxia following on from Assaf’s question? Any information would be greatly appreciated.

    • Hi Hayley,

      Sorry, I haven’t seen any studies on it or received any feedback. It is very difficult to predict the responses of disease to diet, although the NBIA results are encouraging, and it seems likely that a ketone and fat based diet would reduce iron utilization in mitochondria. If you have Friedrich’s ataxia, I suggest trying a ketogenic diet!

      • Thanks for the fast reply, Paul! I am fortunate that I don’t have FA myself, but, sadly, a good friend of mine does and I’m trying to find anything that might help her. I appreciate your response 🙂

  33. My son was just diagnosed with Infantile Neuroaxonal Dystrophy – do you know anything in relation to the ketagenic diet being helpful for that specific gene? It’s under the NBIA umbrella.The reason I ask is because my son has always struggled to break down fats – and then this info from the nbia website says the lipid metabolism is altered? Is it safe to do a ketogenic diet? I”m still learning all this. We’ve been eating a strict Paleo diet with seaweeds and organ meats. This is off the nbia website: ” PLA2G6 is thought to encode an enzyme that breaks down lipids involved in the reconstruction of a cell’s membrane following damage by light and other toxins. When the gene is mutated, lipid metabolism is altered and iron builds up, triggering disease. We do not yet know the specific details of how metabolism is altered or what causes iron to build up in this case. “

    • Hi Kristin,

      When you say he struggles to breakdown fats, do you mean he has difficulty digesting fats? Does he have steatorrhea (diarrhea like loose stools)?

      No diet can completely fix this disorder and it is difficult to predict effects in genetic diseases so you ave to take an experimental approach. The ketogenic diet seems to greatly relieve the iron accumulation issues and intracellular reactive oxygen stress. It will not help the phospholipid problem.

      Another area to experiment with is choline supplementation. Do children with this disorder get acid reflux or other signs of choline deficiency?

      Possibly you can assist fat digestion with enzyme supplements (but don’t overdo lipases, they can harm cellular tissues) and ox bile. Also be sure to eat fats with emulsifying agents like egg yolks, coconut milk, and cream.

  34. Salve!…volevo sapere come sta adesso Zach e se ha continuato con la dieta.Mio figlio ha la stessa malattia genetica e volevo anch’io provarci!!!

  35. Hi Paul,

    What did you think in regards to my son’s Infantile Neuroaxonal Dystrophy diagnosis (PLA2G6 gene) in relation to the ketogenic diet being helpful – he struggles to break down fats, but takes a digestive enzyme. Thanks, Kristin

    • Hi Kristin,

      I answered above. the short answer is I don’t know, you will have to experiment along with other parents of children with the same disorder. Genetic disorders have unpredictable effects so experience and controlled experiments are the best source of knowledge.

  36. Hi Paul,

    I have been reading your website with great interest and have just ordered your book. You suggest your ketogenic diet may be useful for neurological conditions. I still can’t work out whether you think Multiple Sclorosis may benefit from your ketogenic diet or not? Many thanks in advance

  37. In my question above I asked whether you think ketogenic diets could be helpful for MS, looking through this website I see elsewhere you have said it could so that is useful to know. However, as Rob asked in a comment above, I am still not sure whether therapeutic ketogenic diets for neurological conditions are something that needs to be maintained indefinitely or the person can return to your standard PHD diet when symptoms improve?

    Many thanks in advance,

    • Hi Anni,

      Sorry I missed your question earlier. I would say probably a ketogenic diet is not necessary for MS recovery, but it might help, especially at early stages. However, there is much that is uncertain here. I know several people who have recovered from MS on our diet or one closely resembling it, and neither used a ketogenic diet.

  38. Hello Paul, further to Anni’s query above, I would be very grateful if you could ‘spell out’ for me what you believe to be the protocol for recovery/improvement from MS, other than going on to the ketogenic diet you prescribe. I have just received your book and will follow this diet as I have had MS for 15 years now and although I can still walk I know things are deteriorating, and I am now 63. I have excellent health otherwise – no aches or pains but I have developed a dermitis over the last year which is unsightly and irritating on my body and legs. I have never had skin problems before. I would so appreciate your advice as I would love to go long walks again and ride my horse faster than a walk!

  39. I have a friend recently diagnosed with progressive muscular atrophy (PMA). She is in her early 50s, of average weight and was recently put on blood pressure medication. Do you have any particular recommendations for her?

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  42. Hordur Bjorgvinsson

    I have a grandson with PKAN. How do I order the book. It would have to be shipped to Iceland.

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