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G6PD genetic deficiency


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2 replies to this topic

#1 llm

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Posted 01 October 2012 - 02:42 PM

Ok - no need to panic. This post won't apply to most of you. But I came across this today and had to pass along.

I've been using quercetin to get on top of DDs inflammation (allergies - very inflammed nasal passages). She's also complaining of her body hurting. No specific muscle pain - just a flu-like all over body pain. So there's this researcher - Theo Theohardies at Tufts http://www.mastcellm...m/research.html who's a mast cell guru. Mast cells release histamine and many of DDs issues involve histamine (allergies, nausea/GERD, mood/anxiety issues, especially when sick or facing lots of oxidative stress). This doctor is involved with a company that sells a supplement that contains quercetin and luteolin - both of which I keep stumbling onto as promising topics. The product is called NeuroProtek http://www.algonot.com/neuroprotek.php

I haven't decided on the merits of the product but one of the features they boast about is that they use quercetin derived from the saphora plant whereas most quercetin is derived from Fava beans. The reason they say the do this is that some people have a G6DP mutation and experience a type of anemia that can be triggered by fava beans. Anti-malarials, sulfur abx, and other things can also trigger the anemia.

Hmm...what's a G6PD mutation http://en.wikipedia....nase_deficiency and http://g6pddeficiency.org/index.php
G6PD is one of many enzymes that help the body process carbohydrates and turn them into energy. G6PD also protects red blood cells from potentially harmful byproducts that can accumulate when a person takes certain medications, consums some foods or when the body is fighting an infection.

In people with G6PD deficiency, either the RBCs do not make enough G6PD or what is produced cannot properly function. Without enough G6PD to protect them, RBCs can be damaged or destroyed. Hemolytic anemia occurs when the bone marrow (the soft, spongy part of the bone that produces new blood cells) cannot compensate for this destruction by increasing its production of RBCs.

Causes of G6PD Deficiency

G6PD deficiency is passed along in genes from one or both parents to a child. The gene responsible for this deficiency is on the X chromosome.

G6PD deficiency is most common in African-American males. Many African-American females are partially G6PD deficient, meaning they can pass the gene for the deficiency to their children but their symptoms are less severe unless both X chromosomes are affected by G6PD deficiency.

People of Mediterranean heritage, including Italians, Greeks, Arabs, and Sephardic Jews, also are commonly affected. The severity of G6PD deficiency varies among these groups � it tends to be milder in African-Americans and more severe in people of Mediterranean descent. For a scientific discussion of the different strains of G6PD Deficiency, go here.

Why does G6PD deficiency occur more often in certain groups of people? It is known that Africa and the Mediterranean basin are high-risk areas for the infectious disease malaria. Researchers have found evidence that the parasite that causes this disease does not survive well in G6PD- deficient cells. So they believe that the deficiency may have developed as a protection against malaria.

Kids with G6PD deficiency typically do not show any symptoms of the disorder until their red blood cells are exposed to certain triggers, which can be:

illness, such as bacterial and viral infections
certain painkillers and fever-reducing drugs
certain antibiotics (especially those that have "sulf" in their names)
certain antimalarial drugs (especially those that have "quine" in their names)

Some kids with G6PD deficiency can tolerate the medications in small amounts; others cannot take them at all. Check with your doctor for more specific instructions. Go here for a list of medications that could pose a problem for a child with G6PD deficiency.

Other substances can be harmful to kids with this condition when consumed � or even touched � such as fava beans and naphthalene (a chemical found in mothballs and moth crystals). Mothballs can be particularly harmful if a child accidentally swallows one, so ANY contact should be avoided.

Symptoms of G6PD Deficiency

A child with G6PD deficiency who is exposed to a medication or infection that triggers the destruction of RBCs may have no visible symptoms at all. In more serious cases, a child may exhibit symptoms of anemia (also known as a hemolytic crisis), including:

paleness (in darker-skinned children paleness is sometimes best seen in the mouth, especially on the lips or tongue)
extreme tiredness
rapid heartbeat
rapid breathing or shortness of breath
jaundice, or yellowing of the skin and eyes, particularly in newborns
an enlarged spleen
dark, tea-colored urine


Now, DD is 50% Greek and there was enough on this site to make me sit up and re-read. Testing is apparently iffy (surprise surprise) and there is no treatment except to "avoid triggers". But I wanted to pass along because it could be why some are having problems with certain medications or can't seem to shake the fatigue.

FWIW - there are YouTube videos of Theoharides explaining the role of mast cells in autism and how controlling the inflammation can help. Haven't watched yet.


#2 ShaesMom

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Posted 01 October 2012 - 03:17 PM

Ok - no need to panic. This post won't apply to most of you. But I came across this today and had to pass along.

I've been using quercetin to get on top of DDs inflammation (allergies - very inflammed nasal passages). She's also complaining of her body hurting. No specific muscle pain - just a flu-like all over body pain. So there's this researcher - Theo Theohardies at Tufts http://www.mastcellm...m/research.html who's a mast cell guru. Mast cells release histamine and many of DDs issues involve histamine (allergies, nausea/GERD, mood/anxiety issues, especially when sick or facing lots of oxidative stress). This doctor is involved with a company that sells a supplement that contains quercetin and luteolin - both of which I keep stumbling onto as promising topics. The product is called NeuroProtek http://www.algonot.com/neuroprotek.php

I haven't decided on the merits of the product but one of the features they boast about is that they use quercetin derived from the saphora plant whereas most quercetin is derived from Fava beans. The reason they say the do this is that some people have a G6DP mutation and experience a type of anemia that can be triggered by fava beans. Anti-malarials, sulfur abx, and other things can also trigger the anemia.

Hmm...what's a G6PD mutation http://en.wikipedia....nase_deficiency and http://g6pddeficiency.org/index.php
G6PD is one of many enzymes that help the body process carbohydrates and turn them into energy. G6PD also protects red blood cells from potentially harmful byproducts that can accumulate when a person takes certain medications, consums some foods or when the body is fighting an infection.

In people with G6PD deficiency, either the RBCs do not make enough G6PD or what is produced cannot properly function. Without enough G6PD to protect them, RBCs can be damaged or destroyed. Hemolytic anemia occurs when the bone marrow (the soft, spongy part of the bone that produces new blood cells) cannot compensate for this destruction by increasing its production of RBCs.

Causes of G6PD Deficiency

G6PD deficiency is passed along in genes from one or both parents to a child. The gene responsible for this deficiency is on the X chromosome.

G6PD deficiency is most common in African-American males. Many African-American females are partially G6PD deficient, meaning they can pass the gene for the deficiency to their children but their symptoms are less severe unless both X chromosomes are affected by G6PD deficiency.

People of Mediterranean heritage, including Italians, Greeks, Arabs, and Sephardic Jews, also are commonly affected. The severity of G6PD deficiency varies among these groups � it tends to be milder in African-Americans and more severe in people of Mediterranean descent. For a scientific discussion of the different strains of G6PD Deficiency, go here.

Why does G6PD deficiency occur more often in certain groups of people? It is known that Africa and the Mediterranean basin are high-risk areas for the infectious disease malaria. Researchers have found evidence that the parasite that causes this disease does not survive well in G6PD- deficient cells. So they believe that the deficiency may have developed as a protection against malaria.

Kids with G6PD deficiency typically do not show any symptoms of the disorder until their red blood cells are exposed to certain triggers, which can be:

illness, such as bacterial and viral infections
certain painkillers and fever-reducing drugs
certain antibiotics (especially those that have "sulf" in their names)
certain antimalarial drugs (especially those that have "quine" in their names)

Some kids with G6PD deficiency can tolerate the medications in small amounts; others cannot take them at all. Check with your doctor for more specific instructions. Go here for a list of medications that could pose a problem for a child with G6PD deficiency.

Other substances can be harmful to kids with this condition when consumed � or even touched � such as fava beans and naphthalene (a chemical found in mothballs and moth crystals). Mothballs can be particularly harmful if a child accidentally swallows one, so ANY contact should be avoided.

Symptoms of G6PD Deficiency

A child with G6PD deficiency who is exposed to a medication or infection that triggers the destruction of RBCs may have no visible symptoms at all. In more serious cases, a child may exhibit symptoms of anemia (also known as a hemolytic crisis), including:

paleness (in darker-skinned children paleness is sometimes best seen in the mouth, especially on the lips or tongue)
extreme tiredness
rapid heartbeat
rapid breathing or shortness of breath
jaundice, or yellowing of the skin and eyes, particularly in newborns
an enlarged spleen
dark, tea-colored urine


Now, DD is 50% Greek and there was enough on this site to make me sit up and re-read. Testing is apparently iffy (surprise surprise) and there is no treatment except to "avoid triggers". But I wanted to pass along because it could be why some are having problems with certain medications or can't seem to shake the fatigue.

FWIW - there are YouTube videos of Theoharides explaining the role of mast cells in autism and how controlling the inflammation can help. Haven't watched yet.


Don't know about the G6PD stuff but we are actually looking into Mast Cells for Shae. I'll have to watch this video. Thanks

I've ran into a couple of blogs where the Mom's and kids have both lyme (congential) and MCAS. One poor lady is really sick with the MCAS.

http://www.ticksandtrust.blogspot.com/
http://www.caringbri...dling/journal/1

Edited by ShaesMom, 01 October 2012 - 03:25 PM.


#3 sf_mom

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Posted 02 October 2012 - 09:31 AM

Interesting. My friend was having issues 'initially' with anti-malarials and sulphur based antibiotics. They were able to desensitize her to anti-malarial medication so she could treat Babesia plus MSM 'natural sulphur' was also very helpful to her. The symptom list also reads like Babesia and I wonder the cross over.

My son was on Ketitofen for over two years which is also a 'mast cell' stabilizer. Also widely used in Autism community for similar purpose and worth investigating.




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