Aceruloplasminemia
We learned about many
What is it?
Explain/describe the general symptoms of your choice.
Best described as iron accumulation in the body, aceruloplasminemia is a genetic disorder where iron accumulates in organs. This bc of such, it is classifed as a neiodgentiv disirder
Symptoms typically manifest during adulthood
approximaentl y 85% of synomatic patients are also diagnosded with anemia, 80% with diabetes, 77% with reRetinal degeneration, and Neurologic symptoms (65%), which include nvoluntary movement Ataxia Parkinsonism (23%) incl rigidity, akinesia ognitive dysfunction, dementia (36%)
Why is it a thing? Located on chromosome 3, the CP gene, also known as the “ceruloplasmin (ferroxidase)” gene, controls …show more content…
It is possible that environmental factors could affect the phenotype of people with aceruloplasminemia- a 2008 study published in the journal Movement Disorders found that brothers with aceruloplasminemia had their symptoms manifest in drastically different ways, suggesting that environment played just a big role as genetics. But as there was with no evidence from other studies to either support or refute this, because of the small number of documented cases, so it remains unclear the actual effect environment has on aceruloplasminemia. However, we do know that environment can affect some of the symptoms of aceruloplasminemia. For example, the majority of people with aceruloplasminemia develop diabetes because of their aceruloplasminemia, but an unhealthy lifestyle could make their diabetes …show more content…
And if neither desferrioxamine nor fresh frozen plasma transfusions work in a symptomatic patient, the drug deferasirox, another iron chelator, may be prescribed, which has had mild success in treating a (single) patient and also lead to improvement in “cognitive performance, gait and balance” in said patient. The benefits and drawbacks of deferasirox are not well understood however, because of the lack of data, however.
Other symptoms would be treated like they normally would be, demonstrating treatment that suppresses the symptoms. For example, diabetes would be controlled with insulin, just like it would be in any other
We learned about many
What is it?
Explain/describe the general symptoms of your choice.
Best described as iron accumulation in the body, aceruloplasminemia is a genetic disorder where iron accumulates in organs. This bc of such, it is classifed as a neiodgentiv disirder
Symptoms typically manifest during adulthood
approximaentl y 85% of synomatic patients are also diagnosded with anemia, 80% with diabetes, 77% with reRetinal degeneration, and Neurologic symptoms (65%), which include nvoluntary movement Ataxia Parkinsonism (23%) incl rigidity, akinesia ognitive dysfunction, dementia (36%)
Why is it a thing? Located on chromosome 3, the CP gene, also known as the “ceruloplasmin (ferroxidase)” gene, controls …show more content…
It is possible that environmental factors could affect the phenotype of people with aceruloplasminemia- a 2008 study published in the journal Movement Disorders found that brothers with aceruloplasminemia had their symptoms manifest in drastically different ways, suggesting that environment played just a big role as genetics. But as there was with no evidence from other studies to either support or refute this, because of the small number of documented cases, so it remains unclear the actual effect environment has on aceruloplasminemia. However, we do know that environment can affect some of the symptoms of aceruloplasminemia. For example, the majority of people with aceruloplasminemia develop diabetes because of their aceruloplasminemia, but an unhealthy lifestyle could make their diabetes …show more content…
And if neither desferrioxamine nor fresh frozen plasma transfusions work in a symptomatic patient, the drug deferasirox, another iron chelator, may be prescribed, which has had mild success in treating a (single) patient and also lead to improvement in “cognitive performance, gait and balance” in said patient. The benefits and drawbacks of deferasirox are not well understood however, because of the lack of data, however.
Other symptoms would be treated like they normally would be, demonstrating treatment that suppresses the symptoms. For example, diabetes would be controlled with insulin, just like it would be in any other