5

votes

Phenylketonuria, PKU

Answered on August 19, 2014
Created April 17, 2010 at 3:36 PM

Just had our baby boy, Friedrich "Fritz" Ward Rangitsch on the 15th. Fed up Paleo (85%) from before conception (41 year old Pop, 38 year old Mom). A very Paleo/Primal experience from start to finish.

My question is on PKU since it has been a topic for me of late. Not looking for a debate, or even to share our decisions in any of the vaccine/testing of a newborn.

PKU is the rare inherited reduction or complete lack of an enzyme to metabolize an amino acid, and can lead to a "poisoning" from that amino leading to neurological problems, etc. Seems the CW take is to follow a PKU diet that eliminates just about all protein, eliminated soy, seitian, red meat, eggs, milk, etc. It has occurred to me that the CW take to solve gout is to eliminate red meat and meats high in purines, when in reality Gout is mediated/cured by the elimination of fructose and reduction sugars in general. The CW take is to see all the excess purines and then move to eliminate them in the diet, but is it cause/effect or is the causality reversed? Our diets are very high in fat (70%+) and Fritz's is up there as well (breast feeding, so the natural proportions there)

As such, could PKU be of a similar bent? Perhaps the "cure" to PKU is to keep out such nasties as Aspartame, soy, setian.... which we will do as a matter of course, nothing whatsoever to do with PKU.

0d2dec01a5ed9363a9915e111ae13f7e

(4583)

on December 20, 2011
at 04:17 AM

Nigral, just a ping back to say thanks for your comment, not lost on deaf ears. My PKU inquiry was just feeling things out, not really a comment on our decisions, and the PaleoHacks community provided in spades. The little guy is 20 months old as of today and right on track.

9de28a80b0dea81e50495aa5bf28184b

(180)

on December 19, 2011
at 02:40 PM

Tim, I'm father of a PKU. Please, please, plesae DO screen your baby!!!! It has nothing to do with paleo, grains or anything else. PKU is a rare genetic disorder that was unknown until 70s. Video here_ http://www.youtube.com/watch?v=SPzA-UD8Vx4 Phenylalanine is not properly metabolized and it acummulates in brain and nerve tissue provoking mental retardation. The only way to treat PKU now is avoiding proteins, supplement aminoacids, and consume carbs and fats.

0d2dec01a5ed9363a9915e111ae13f7e

(4583)

on July 19, 2010
at 04:41 AM

We did hold off the PKU (and other metabolic disorders) screening for 3 weeks after birth. It's a bit more than a simple "finger stick" but more of a sub 1cm slice along the heel, Fritz didn't wince at the procedure, and all tests came back fine and dandy. His heel was healed up more or less instantly. I do wonder is it possible for the parents to undergo the screening for various metabolic disorders, and in this way rule out their offsprings' chances of any particular disorder. It's sure easier on me to undergo a blood letting than a newborn baby to do it!

0d2dec01a5ed9363a9915e111ae13f7e

(4583)

on May 14, 2010
at 01:02 AM

It is frustrating they wanted to run the PKU test at birth, as in the moment of birth. Yet, the test is inaccurate if the newborn has not eaten breast milk (or formula) for up to 48 hours for the problem to manifest for the test to read it: http://children.webmd.com/phenylketonuria-pku-test So that would be a test followed by another test. Protocol oughta call for a test at 48 hours.

0bc6cbb653cdc5e82400f6da920f11eb

(19235)

on April 18, 2010
at 03:36 PM

I think it is highly likely that he can :)

0d2dec01a5ed9363a9915e111ae13f7e

(4583)

on April 18, 2010
at 03:32 PM

We are just planning to give him the best start. He's had that since before conception and will be on going. Mother eats as "clean" as I can source, game meat, range-fed beef, wild caught trout, eggs, veggies, raw milk/cream/butter from natural/local producers. I wonder if Fritz can have a broad face, wide jaw, good teeth, eyesight, sinus etc rather than being a skinny faced, crooked toothed, nearsighted mouth breather like his Pop!

9dce97b4c4762a78a577a11585eef8f2

(1239)

on April 18, 2010
at 03:30 PM

I must also speak up here to say that there are times when formula is necessary. As a mother who suffered from low milk supply twice (due to hypothyroidism), I can say that the demonizing of formula by well meaning people and organizations made me feel like I was poisoning my children when I was just doing what I had to to feed them. Breast is absolutely best, but don't judge 'til you've been there.

0bc6cbb653cdc5e82400f6da920f11eb

(19235)

on April 18, 2010
at 02:09 PM

I am doubtful that epigenetics from parents plays a big role in humans. Influences directly in the womb are more likely. Traditional eskimos ate alot of fat and weren't tall. Average male height of 5 foot 5 inches in the 1930's. http://jn.nutrition.org/cgi/reprint/18/4/361.pdf If you want be really tall drink lots of milk with its natural growth hormones like the Masai and the Dutch do. http://www.ajcn.org/cgi/content/full/80/4/1088-a

9d43f6873107e17ca4d1a5055aa7a2ad

on April 18, 2010
at 05:09 AM

If he actually had PKU, formula is kind of the only option. In paleo times, people with PKU died.

0d2dec01a5ed9363a9915e111ae13f7e

(4583)

on April 18, 2010
at 01:16 AM

This might be a topic for another line of inquiry! But certainly we shall see if the epigenetic/genetic influences, the sins of the father (and grandfather, and great grandfather) are so easily reversed! Pottenger's cats re-played in my own flesh and blood! I am certainly counting on the best gene expression I can give the lad! And thanks for the well wishes, all!

93f44e8673d3ea2294cce085ebc96e13

(10502)

on April 17, 2010
at 08:55 PM

This is one of those rare times when I disagree with Melissa -- I say stay from formulas at all times.

0bc6cbb653cdc5e82400f6da920f11eb

(19235)

on April 17, 2010
at 07:17 PM

Thanks Ed, totally agree with you. Made a minor edit in light of your point. – Matthew 12 mins ago

0bc6cbb653cdc5e82400f6da920f11eb

(19235)

on April 17, 2010
at 07:04 PM

Thanks E, totally agree with you. Made a minor edit of the grammer in light of your point.

6426d61a13689f8f651164b10f121d64

(11488)

on April 17, 2010
at 05:33 PM

Great answer Matthew, but I don't think Tim's son actually has PKU. I think Tim is contemplating refusing metabolic screening for his son (correct me if I'm wrong Tim). Failure to diagnose PKU can cause irreversible and progressive mental retardation. A paleo diet will not protect against the harmful effects of PKU. Congratulations Tim, and get the screening.

9d43f6873107e17ca4d1a5055aa7a2ad

on April 17, 2010
at 05:31 PM

Seems like butter, lard, and ghee are OK though.

9d43f6873107e17ca4d1a5055aa7a2ad

on April 17, 2010
at 04:57 PM

I would make sure to supplement or use a formula that contains DHA http://www.ncbi.nlm.nih.gov/pubmed/19615874 when your son is no longer breastfeeding. Other supplements that might be beneficial would be taurine and CLA, which seem to be under-appreciated in CW.

9d43f6873107e17ca4d1a5055aa7a2ad

on April 17, 2010
at 04:47 PM

Does your son definitely have it?

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2 Answers

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6
0bc6cbb653cdc5e82400f6da920f11eb

(19235)

on April 17, 2010
at 04:31 PM

Congratulations on the birth of your son.

This is a situation in which to be very thankfull for modern science and medicine and the screening of newborn babies. The genetic mutation has been around for a long time and is present worldwide although Phenylketonuria is rare. Fortunately it is now known that avoiding all dietary sources of the amino acid phenylalanine prevents the negative consequences, in a similar way to avoiding all gluten in celiac disease, however much inconvenience (a lot) this creates. This has to take priority over any other food choices, sufferers of PKU are unfortunately the rare cases for whom meat, fish and eggs can be completely toxic.

Babies born without this enzyme at any time in the past suffered terribly from it. However by following your doctors adicve carefully PKU children can grow up just fine. The science on rare genetic problems is much clearer and more certain than that on general food and health (such as Gout).

Diet or environment is not envolved in causing mutations like PKU, they are simply a an occasional faulty result of the way our DNA works.

Best wishes to you both and your son.

9d43f6873107e17ca4d1a5055aa7a2ad

on April 17, 2010
at 05:31 PM

Seems like butter, lard, and ghee are OK though.

0bc6cbb653cdc5e82400f6da920f11eb

(19235)

on April 17, 2010
at 07:17 PM

Thanks Ed, totally agree with you. Made a minor edit in light of your point. – Matthew 12 mins ago

6426d61a13689f8f651164b10f121d64

(11488)

on April 17, 2010
at 05:33 PM

Great answer Matthew, but I don't think Tim's son actually has PKU. I think Tim is contemplating refusing metabolic screening for his son (correct me if I'm wrong Tim). Failure to diagnose PKU can cause irreversible and progressive mental retardation. A paleo diet will not protect against the harmful effects of PKU. Congratulations Tim, and get the screening.

0bc6cbb653cdc5e82400f6da920f11eb

(19235)

on April 17, 2010
at 07:04 PM

Thanks E, totally agree with you. Made a minor edit of the grammer in light of your point.

0d2dec01a5ed9363a9915e111ae13f7e

(4583)

on May 14, 2010
at 01:02 AM

It is frustrating they wanted to run the PKU test at birth, as in the moment of birth. Yet, the test is inaccurate if the newborn has not eaten breast milk (or formula) for up to 48 hours for the problem to manifest for the test to read it: http://children.webmd.com/phenylketonuria-pku-test So that would be a test followed by another test. Protocol oughta call for a test at 48 hours.

0d2dec01a5ed9363a9915e111ae13f7e

(4583)

on July 19, 2010
at 04:41 AM

We did hold off the PKU (and other metabolic disorders) screening for 3 weeks after birth. It's a bit more than a simple "finger stick" but more of a sub 1cm slice along the heel, Fritz didn't wince at the procedure, and all tests came back fine and dandy. His heel was healed up more or less instantly. I do wonder is it possible for the parents to undergo the screening for various metabolic disorders, and in this way rule out their offsprings' chances of any particular disorder. It's sure easier on me to undergo a blood letting than a newborn baby to do it!

2
06d21b99c58283ce575e36c4ecd4a458

(9948)

on April 17, 2010
at 11:17 PM

Jimmy Moore reports from a Low Carb Conference in Seattle today that groups of people whose traditional native diet consists of mostly high fat grow maybe 5 inches taller than groups that eat mostly grains and carbs.

Masai are tall and healthy and a neighboring tribe eating grains are 5 inches shorter.

Fritz is going to be a giant. Sign him up for a multimillion dollar NBA contract!

And keep Fritz on breast milk for at least 3 years. There is no paleo formula!!

Contratulations on the birth of your son!

0d2dec01a5ed9363a9915e111ae13f7e

(4583)

on April 18, 2010
at 01:16 AM

This might be a topic for another line of inquiry! But certainly we shall see if the epigenetic/genetic influences, the sins of the father (and grandfather, and great grandfather) are so easily reversed! Pottenger's cats re-played in my own flesh and blood! I am certainly counting on the best gene expression I can give the lad! And thanks for the well wishes, all!

0bc6cbb653cdc5e82400f6da920f11eb

(19235)

on April 18, 2010
at 02:09 PM

I am doubtful that epigenetics from parents plays a big role in humans. Influences directly in the womb are more likely. Traditional eskimos ate alot of fat and weren't tall. Average male height of 5 foot 5 inches in the 1930's. http://jn.nutrition.org/cgi/reprint/18/4/361.pdf If you want be really tall drink lots of milk with its natural growth hormones like the Masai and the Dutch do. http://www.ajcn.org/cgi/content/full/80/4/1088-a

0d2dec01a5ed9363a9915e111ae13f7e

(4583)

on April 18, 2010
at 03:32 PM

We are just planning to give him the best start. He's had that since before conception and will be on going. Mother eats as "clean" as I can source, game meat, range-fed beef, wild caught trout, eggs, veggies, raw milk/cream/butter from natural/local producers. I wonder if Fritz can have a broad face, wide jaw, good teeth, eyesight, sinus etc rather than being a skinny faced, crooked toothed, nearsighted mouth breather like his Pop!

0bc6cbb653cdc5e82400f6da920f11eb

(19235)

on April 18, 2010
at 03:36 PM

I think it is highly likely that he can :)

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