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Inborn errors of metabolism

tiredowl

Senior Member
Messages
170
Location
Norway
Does anyone know anything about these? Apparently there exist quite many of them, but they seem to be rather rare. Some can cause lactic acidosis and disturbances in metabolism.
 

taniaaust1

Senior Member
Messages
13,054
Location
Sth Australia
this subject is really too broad to talk about it much.. we all have genetic errors and gene mutations in our bodies which can cause issues and more risks or actual problems with things. I dont think if there is such thing as a "perfect" human
 

tiredowl

Senior Member
Messages
170
Location
Norway
this subject is really too broad to talk about it much.. we all have genetic errors and gene mutations in our bodies which can cause issues and more risks or actual problems with things. I dont think if there is such thing as a "perfect" human
Yes, this is true. Most have some mutations even if it doesn't necessarily express itself.
I was just curious of metabolism block could be related.
 

alicec

Senior Member
Messages
1,572
Location
Australia
The term inborn errors of metabolism (IEMs) has a specific meaning and doesn't just refer to any genetic change no matter how trivial.

IEMs are a large group of rare genetic diseases that generally result from a defect in an enzyme or transport protein which results in a block in a metabolic pathway. Effects are due to toxic accumulations of substrates before the block, intermediates from alternative metabolic pathways, defects in energy production and use caused by a deficiency of products beyond the block, or a combination of these metabolic deviations. Often the central nervous system is affected, leading to neurological disease.

The Wikipaedia entry gives an indication of the types of metabolic disorders that constitute the IEMs and the serious symptoms that are a consequence.

Some of the more common diseases have an incidence of 1 in 10,000 - 1 in 20,000 while the rarest are around 1 in 250,000.

Most are diagnosed very early in childhood because of the severity of symptoms. Milder forms might only begin to manifest in adulthood.

Please note though that even the milder forms are very serious diseases. We are not talking about the small effects of common variant SNPs that are the subject of much internet chatter.
 

tiredowl

Senior Member
Messages
170
Location
Norway
Most are diagnosed very early in childhood because of the severity of symptoms. Milder forms might only begin to manifest in adulthood.

Yes, I noticed some have onset in adulthood, which is a bit concerning to be honest. Since I have chronic low blood sugar that they haven't really been able to find out.
 
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Runner5

Senior Member
Messages
323
Location
PNW
My son and I have the same problem digesting protein, probably a genetic enzyme issue.
 

Runner5

Senior Member
Messages
323
Location
PNW
Yes, Whey protein shakes, the protein is so broken down it's basically pre-digested. I have found whey works for me and soy - but not the plant stuff. If I start using Vega pea-protein shakes (or rice, or hemp) I'll be sick within three days and doing poorly. ((With Whey shakes more is not better, your body can only assimilate so much at a time, so I'll make two small shakes for my day instead of one larger shake))

Additionally, my son and I we both take L-Tyrosine.

Without supplementation, we're in trouble in a hurry. Insomnia, hair loss, anxiety, depression, feeling like the world is closing in, paranoia, extreme OCD, looping thoughts and psychosis. It isn't pretty. With supplementation -- well my son is vice president of his senior class and has a 4.0 -- when I first took him to the doctor at age ten they thought I would have to take him out of school and put him on Lithium and add to a cocktail of psych meds and they told me there was no treatment and he had a life-long disability.

The difference in us on and off of protein shakes and aminos is day and night. If I work out I also take L-Glutamine. I am just generally aware that I'm not going to extract amino acids I need from the food that I eat.

I think it's one of those genetic advantages/disadvantages -- most of my ancestors were loners. They would go out into the wilderness for months by themselves and be just fine. They did not play well with others, but they were tough, rugged, ruthless kind of survivors. Ancestors were initially some of the Pioneers in Oklahoma doing the land rush but no matter how far out they settled there were always 'too many people' around. I mean, I guess that is the only obvious common denominator I know because I don't know my relatives too well (go figure, it's hard to get to know loners) and most of the people I'm related to have all died off. I'm not sure they had the same protein issue as myself, but I suspect at least some did.

Hope this helps some what.