This has been driving my crazy the last 2 days. I can't find it on Google, cause I dont know the exact question to ask..and my friends dont know either. What is the genetic term that states: an individuals genetic disorder can be somewhat hidden if their enviornment provides the necessary factors that they are deficient in.

 

For example: I have a genetic disorder where I cannot make metabolite A, but in my enviornment, my diet provides metabolite A, so my effects of my genetic disorder are not very apparent.

 

Any guesses?

 

~EE

Why would you need a word for it? How about "normality".

For humans, the metabolite is vitamin C.

Good answer. It shows how important frames of reference are. For example, in a population where the vast majority would be able to synthesize a compound but say a few lack that ability and it results in a given disease phenotype, one might call it a disorder. How it is called is more dependent on the phenotype (or symptoms if you will) than the actual biochemical pathways.

In microbes one would call it auxotrophy.

If, however, the responsible allele is similarly common or even more common than the intact variant and there is no obvious disease phenotype (due to nutrition), it generally would not be classified as a disorder.

 

A simple example is lactose intolerance, which can be considered the "normal" phenotype (as a mutation allows it to remain active during adulthood) and is not considered to be a disorder, despite the inability to perform a specific metabolic step.

Again, in biology context is extremely important.

My genetic inability to breathe underwater is generally hidden by the presence of land in my environment.

My goldfish has a different outlook.

 

I think there's a related genetics notion called masking or some such.

Good news! I found out the answer. It was a combination of me not knowing the answer and how to phrase the question properly.

 

The answer is "haploinefficiency"...where essentially half the gene is functional (for lack of a better term), and the other half is not functional. Sometimes, the environment can provide relief such as diet to lessen the effects of the half-gene efficiency, so the person with the disorder does not know they have it.

That is quite different to what was described in OP, though.

The answer is "haploinefficiency"...

 

 

Haploinsufficiency ?

I assume so. At least I autocorrected it to that in my brain.

Edited November 8, 20169 yr by CharonY

 

 

Haploinsufficiency ?

Yea

PKU is a classic example.

 

https://en.wikipedia.org/wiki/Phenylketonuria

 

I think you would just say it's "treatable".

Edited December 16, 20169 yr by The Bobster