Glutaric acidemia type 1

[Jacques]

Hi all,

My spouse and I have known three weeks ago that our grandson had a very rare disease. Up to monday, the doctors did not know exactly what was the disease. They knew that it was a genetic disease but they could not say which one it was. They said that the white matter of his brain has been affected too.

So Liam's parents have met the doctors monday and they finally know the name of the disease.

Liam has Glutaric acidemia type 1. In summary, he does not have the mitochondrial enzyme to catalyze and digest the amino acids L-lysine. So he will have to follow a very specific diet. He can not eat proteins where you can find that amino acid called L-lysine. So, no dairy product, no eggs, no meat, no fish, no bone-broth... The only source of protein will be a very specific milk where you don't find that amino acid.

They don't know if he will be able to walk one day, to speak normally and to regain all his motility.

He is the first one to have that disease in the area. So, the doctors are going to follow him very closely and he will have to see them at least once a month.

However, before taking anything new (vitamin, fruits, homeopathic products...), the parents must ask the doctors if it is ok for him.

Although, Liam had not received any kind of vaccines so far and that the parents were not very favorable to that, they won't have the choice to go with that since it is a specific part of the protocol and he must follow it very carefully without deviate for it. It is very important that Liam does not have any kind of fever crisis because it could be very dangerous for him.

For the time being, he still does not sleep very well and someone must always be with him when he is awaken otherwise he is crying. Probably because his body is full of toxins and hoping that with the diet, he will be free of those dangerous toxins for him.

You can easily guess that his parents are very tired, his mother has lost more than 10 pounds, his grandmother is very affected by that and we try as much as we can, to help them.

But overall, we still keep hope that since he is very young, that the total recovery is possible. Not only he will be followed by traditional medicine but he will also receive treatments from alternative medicine.

 

[LQB]

Wow - sorry to hear about that Gandalf. :(

My understanding is that lysine, proline, and glycine (plus Vit C) are necessary for efficient collagen production. Is it possible to administer the missing enzyme?

 

[Jacques]

Wow - sorry to hear about that Gandalf. :(

My understanding is that lysine, proline, and glycine (plus Vit C) are necessary for efficient collagen production. Is it possible to administer the missing enzyme?

The doctors said that it was not possible. :(

 

[Gaby]

I'm sorry Gandalf. Can he take vitamin C? If it is okay, he could have that to protect him during the vaccination time and also to give him an extra boost to detox. It does make the whole difference.

 

[Jacques]

I'm sorry Gandalf. Can he take vitamin C? If it is okay, he could have that to protect him during the vaccination time and also to give him an extra boost to detox. It does make the whole difference.

Thanks Psyche.

I am going to inform his mother about that and I will let you know as soon as I know if he can take Vitamin C.

 

[Gertrudes]

So sorry to hear that Gandalf :(

Is this something that although lingering on the background manifested itself recently, or from since he was born?

For the time being, he still does not sleep very well and someone must always be with him when he is awaken otherwise he is crying. Probably because his body is full of toxins and hoping that with the diet, he will be free of those dangerous toxins for him.

Do you mean toxins from drugs administered by doctors?

A quick search on the net confirms that the disease is caused by a mutation in the GCDH gene, which would beg the question of what causes the mutation in the first place.

According to this article, the condition is more prevalent within certain communities:

How common is glutaric acidemia type I?

Glutaric acidemia type I occurs in approximately 1 of every 30,000 to 40,000 individuals. It is much more common in the Amish community and in the Ojibwa population of Canada, where up to 1 in 300 newborns may be affected.

I wonder if there is a dietary component to this.

Thanks Psyche.

I am going to inform his mother about that and I will let you know as soon as I know if he can take Vitamin C.

And perhaps some liposomal glutathione as well? I don't know if this would be appropriate though, it's what occurred to me when reading your post. It's very hard to find glutathione in powder for a home made variation, but there are a few already made liposomal brands.

 

[Jacques]

So sorry to hear that Gandalf :(

Is this something that although lingering on the background manifested itself recently, or from since he was born?

Yes it manifested just recently after a small fever.

For the time being, he still does not sleep very well and someone must always be with him when he is awaken otherwise he is crying. Probably because his body is full of toxins and hoping that with the diet, he will be free of those dangerous toxins for him.

Do you mean toxins from drugs administered by doctors?

Not at all, toxins from the amino acid that Liam can not digest.

A quick search on the net confirms that the disease is caused by a mutation in the GCDH gene, which would beg the question of what causes the mutation in the first place.

Unfortunately both parents had the recessive genes and the probability to have a child with that disease according to the genetic doctors was 50%.

According to this article, the condition is more prevalent within certain communities:

How common is glutaric acidemia type I?

Glutaric acidemia type I occurs in approximately 1 of every 30,000 to 40,000 individuals. It is much more common in the Amish community and in the Ojibwa population of Canada, where up to 1 in 300 newborns may be affected.

I wonder if there is a dietary component to this.

As far as I understand it, it is a genetic component that can be controlled by a very specific diet.

 

[Chu]

This is really heartbreaking. You are your family are in my thoughts.

I was reading a bit about it, and I'm not so sure that this is all one can do concerning his diet. Also, there is a treatment with riboflavin (100 mg/day) and L-carnitine (1000 mg/day). See here:
http://www.ncbi.nlm.nih.gov/pubmed/10723193
(it was used on glutaric aciduria type II, though, but carnitine is used on type I too).

We would need to do some more research, I think. Here is a list of papers about it: http://lib.bioinfo.pl/pmid:18411069

I'm not sure at all about what this really means:

http://expertmapper.com/go/ketosis/-gcau/-vEmArt
Three patients with ketosis had increased excretion of 3-hydroxyglutarate (21.8-37.9 micromol/mmol creatinine; controls 2.3 +/- 1.6), an indicator of glutaryl-CoA dehydrogenase deficiency (GDHD), which normalized when the patients were nonketotic.

I can't find anything about 3-hydroxyglutarate in relation to ketosis on a person without a mitochondrial issue. But if I'm reading the quote correctly, it means that ketosis would be bad for Liam (???). That would suggest that this is an extreme kind of mutation. I mean, to have genes mutated to the point where a human being can actually be harmed by what it supposed to be THE healthiest way of eating according to our hard-wiring, is just flabbergasting. I'm very sorry if this is the case. But as I said, maybe there is some thing else that can be done?

Did the parents know that they had a 50% chance of their baby developing this condition? I am assuming that they only just found out.

 

[Jacques]

This is really heartbreaking. You are your family are in my thoughts.

Thanks so much Ailén

I was reading a bit about it, and I'm not so sure that this is all one can do concerning his diet. Also, there is a treatment with riboflavin (100 mg/day) and L-carnitine (1000 mg/day). See here:
http://www.ncbi.nlm.nih.gov/pubmed/10723193
(it was used on glutaric aciduria type II, though, but carnitine is used on type I too).

Liam is already taking these two products according to the protocol given by the doctors.

We would need to do some more research, I think. Here is a list of papers about it: http://lib.bioinfo.pl/pmid:18411069

I'm not sure at all about what this really means:

http://expertmapper.com/go/ketosis/-gcau/-vEmArt
Three patients with ketosis had increased excretion of 3-hydroxyglutarate (21.8-37.9 micromol/mmol creatinine; controls 2.3 +/- 1.6), an indicator of glutaryl-CoA dehydrogenase deficiency (GDHD), which normalized when the patients were nonketotic.

I can't find anything about 3-hydroxyglutarate in relation to ketosis on a person without a mitochondrial issue. But if I'm reading the quote correctly, it means that ketosis would be bad for Liam (???). That would suggest that this is an extreme kind of mutation. I mean, to have genes mutated to the point where a human being can actually be harmed by what it supposed to be THE healthiest way of eating according to our hard-wiring, is just flabbergasting. I'm very sorry if this is the case. But as I said, maybe there is some thing else that can be done?

As far as I understand it, it is a kind of mutation and in order to have the disease, your both parents must have the defective gene. It is a recessive gene.
If only one parent has it, the children won't have the disease but they are some probabilities that they could have the defective gene.

Did the parents know that they had a 50% chance of their baby developing this condition? I am assuming that they only just found out.

No they did not.

 

[SeekinTruth]

So sorry to hear about this, Gandalf. You and your family are in my thoughts.

I've bought glutathione powder in the past, so if it will be possible/beneficial to make liposomal glutathione as Gertrudes suggested, you may be able to find it. One source was Dr. Clark Store (dot) com.

 

[Kaigen]

So sorry to hear that, Gandalf. Please stay strong, best to you and your family.

 

[Gertrudes]

So sorry to hear that Gandalf :(

Is this something that although lingering on the background manifested itself recently, or from since he was born?

Yes it manifested just recently after a small fever.

From what I read it seems that a metabolic crisis, meaning, when the condition becomes manifested, can be triggered by a period of ilness, fever, or after being for a long time without eating. From: _https://www.counsyl.com/diseases/glutaric-acidemia-type-1/

In most children, symptoms appear between two months and four years of age. A smaller number do not show symptoms until later, even as late as adulthood. Symptoms appear as a “metabolic crisis,” an episode marked by low blood sugar, vomiting, lack of energy, difficulty feeding, irritability, and poor muscle tone that causes the body to seem floppy. If unrecognized and untreated with a special diet, these episodes can progress to cause spastic and jerking muscle movements, seizures, swelling and bleeding of the brain, coma, and even death. They can often be triggered by illness, fever, or going too long without eating.

The "going too long without eating" part caught my attention as it would possibly support what Ailén wrote above regarding ketosis having a negative effect on people with this condition. The reasoning being that not eating for a long period will more easily trigger ketosis, as many have experienced here.

A quick search on the net confirms that the disease is caused by a mutation in the GCDH gene, which would beg the question of what causes the mutation in the first place.

Unfortunately both parents had the recessive genes and the probability to have a child with that disease according to the genetic doctors was 50%.

I couldn't find anything on what causes the recessive gene on the parents though, at least not yet.

I wonder if there is a dietary component to this.

As far as I understand it, it is a genetic component that can be controlled by a very specific diet.

I was thinking about a dietary component at the root of the problem itself that would have caused the mutation, because this is certainly a very puzzling condition.

I can't find anything about 3-hydroxyglutarate in relation to ketosis on a person without a mitochondrial issue. But if I'm reading the quote correctly, it means that ketosis would be bad for Liam (???).

When looking it up yesterday the consensus seemed to be that protein would have to be severely restricted for all individuals afflicted since they can't metabolize certain amino acids, so that would certainly compromise the possibility of going into a ketogenic diet.
Did the doctors say why he couldn't be given enzymes Gandalf?

 

[loreta]

It is very sad, yes indeed. :(

I just wrote to my sister, who is working in one of the best hospitals for children in Montreal. I asked her if she can give some inputs. If something, I will tell you.

 

[Foxx]

I'm sorry to hear about this too, Gandalf. Good luck to Liam and I hope that there's some way to cure this and that you can find it!

 

[Laura]

Like Gertrudes, I wonder about the cause of the genetic component as well. Mutations can happen due to diet via epigenetics. Obviously, a condition like this is not adaptive and should not be passed on under ordinary circumstances. Do they have other children? I would suggest that they not have any other children. Even if one of them misses getting both genes, they will probably get one copy and pass it on for a future tragedy. Perhaps the parents will want to do some genealogy and maybe other family members will contribute to a DNA study or something?