A Research Paper on Trimethylaminuria
Makenzie Paulson
Genetics
Mr. Ken Blacksmith
Milwaukie High School
June 1st, 2018 Abstract
In 1970, the first clinical case of trimethylaminuria (TMAU) was found by J.R Humbert, when diagnosing a 6-year old girl. Trimethylaminuria, is a rare metabolic disorder caused by a genetic mutation or variation, that causes a strong, pungent fish odor to be excreted from the body in the form of sweat, urine, and other bodily fluids. Those diagnosed with trimethylaminuria are more likely to experience social and psychological complications due to isolation, as well as complications such as low blood pressure, and low red blood cell count. Both indirectly related to trimethylaminuria, but are common in diagnosed …show more content…
Trimethylaminuria is a rare, genetic, metabolic disorder in which the bodily fluids being excreted contain Flavin Containing Monooxygenase 3, or FMO3. The FMO3 gene is unable to breakdown Trimethylamine (TMA) into Trimethylamine N-Oxide in a natural bodily process. The FMO3 protein oxidases a chemical reaction within the bodily fluids that allow Trimethylamine to break down into a non-pungent chemical, Trimethylamine N-Oxide (TMAO). Trimethylamine is the chemical compound that is responsible for the strong fishy odor in bodily fluids. When FMO3 proteins are working, the Trimethylamine is converted into the Trimethylamine N-Oxide chemical, which is the non-pungent chemical version of trimethylamine that is excreted in one’s sweat, urine, saliva, and sexual reproductive fluids. Mutations in the FMO3 gene can cause delusional disorder, as well as trimethylaminuria, more commonly known as fish odor …show more content…
Goodness Nwankpa, an example who has found worth in sharing her story, has talked about her personal struggles with the disease and what can be done to help people living with of trimethylaminuria. Nwankpa said growing up with the disease she was bullied and isolated because of her disorder. People believed that she was a dirty person rather than someone living with a disorder and often found herself, like many others, at the center of an isolated world. Her isolation and bullying eventually lead to her development of anxiety. (Nwankpa, 2016) Raising general awareness about the disease may help people with malodor disease as they no longer will have to live in silence. Allowing people to become educated on what exactly the genetic disease is, and how it can affect one’s everyday life. (Nwankpa, 2016) She had also suggested that people spread and share her personal story. She believed that getting her story out there could help other patients cope with their disorder by recognizing they are not alone, and they are not bad or dirty people like she once thought of herself. (Nwankpa, 2016). Nwankpa story illustrates what it is like to live with trimethylaminuria and the psychological effect it can have on
Makenzie Paulson
Genetics
Mr. Ken Blacksmith
Milwaukie High School
June 1st, 2018 Abstract
In 1970, the first clinical case of trimethylaminuria (TMAU) was found by J.R Humbert, when diagnosing a 6-year old girl. Trimethylaminuria, is a rare metabolic disorder caused by a genetic mutation or variation, that causes a strong, pungent fish odor to be excreted from the body in the form of sweat, urine, and other bodily fluids. Those diagnosed with trimethylaminuria are more likely to experience social and psychological complications due to isolation, as well as complications such as low blood pressure, and low red blood cell count. Both indirectly related to trimethylaminuria, but are common in diagnosed …show more content…
Trimethylaminuria is a rare, genetic, metabolic disorder in which the bodily fluids being excreted contain Flavin Containing Monooxygenase 3, or FMO3. The FMO3 gene is unable to breakdown Trimethylamine (TMA) into Trimethylamine N-Oxide in a natural bodily process. The FMO3 protein oxidases a chemical reaction within the bodily fluids that allow Trimethylamine to break down into a non-pungent chemical, Trimethylamine N-Oxide (TMAO). Trimethylamine is the chemical compound that is responsible for the strong fishy odor in bodily fluids. When FMO3 proteins are working, the Trimethylamine is converted into the Trimethylamine N-Oxide chemical, which is the non-pungent chemical version of trimethylamine that is excreted in one’s sweat, urine, saliva, and sexual reproductive fluids. Mutations in the FMO3 gene can cause delusional disorder, as well as trimethylaminuria, more commonly known as fish odor …show more content…
Goodness Nwankpa, an example who has found worth in sharing her story, has talked about her personal struggles with the disease and what can be done to help people living with of trimethylaminuria. Nwankpa said growing up with the disease she was bullied and isolated because of her disorder. People believed that she was a dirty person rather than someone living with a disorder and often found herself, like many others, at the center of an isolated world. Her isolation and bullying eventually lead to her development of anxiety. (Nwankpa, 2016) Raising general awareness about the disease may help people with malodor disease as they no longer will have to live in silence. Allowing people to become educated on what exactly the genetic disease is, and how it can affect one’s everyday life. (Nwankpa, 2016) She had also suggested that people spread and share her personal story. She believed that getting her story out there could help other patients cope with their disorder by recognizing they are not alone, and they are not bad or dirty people like she once thought of herself. (Nwankpa, 2016). Nwankpa story illustrates what it is like to live with trimethylaminuria and the psychological effect it can have on