Treatment

Treatment

Hello broritos

Today I am going to talk about the available treatment for Alkaptonuria.

Unfortunately, there is no available cure for Alkaptonuria. However, there are treatments for symptom relief and prevention of further complication. According to a doctor in Liverpool, cure for Alkaptonuria is possible in the next 10-15 years using gene therapy.

Finally, some good news for Alkaptonuria patients.

WELL !! THERE IS NO CURE!! BUT, AT LEAST THERE IS TREATMENT :)

1)Nitisinone is a drug administered to reduce HGA level. Currently, Nitisinone is in advanced clinical trials.

Nitisinone inhibits the enzyme 4-hydroxyphenylpyruvate dioxygenase which is required to convert 4-hydroxyphenylpyruvate to HGA.Thus by taking in nitisinone, the body’s HGA drops as HGA is not produced anymore. In some research studies, the amount of HGA released in the urine dropped by 95%. However, significant improvement in mobility and musculoskeletal function was not observed. In most patients, side effects were not observed although a handful had side effects such as corneal crystals, liver transaminase and elevated plasma tyrosine level (tyrosinemia). Most of these side effects were noticed during short trials such as 15 weeks.  Long time side effects are still unknown. Furthermore, a patient under nitisinone is theoretically able to develop neurologic complications associated with tyrosinemia type III. Another effect of high plasma tyrosine levels is irritation in the corneas.

Yea, you may not want those contacts buddy...

But you may be wondering, aren't those side effects really bad? Tyrosinemia is no joke! And you're absolutely right. But research has shown that very simply it can be alleviated by restricting on foods with high tyrosine and phenylalanine content, such as cheese, nuts, milks and some meats.


Homer thinks this should be in the Complications section of Alkaptonuria

2) Low protein diet has shown to reduce the amount of HGA in the urine. However, long term side effects are possible and it is not a practical for daily living

MORE WEIGHTS, MORE PROTEIN!! WHO CARES ABOUT ALKAPTONURIA!! 

3) Increasing vitamin C uptake has been hypothesized to prevent deposition of ochronotic pigments on the bones and slow down arthritis. However, the amount of HGA excreted in the urine remains the same and consuming way too much vitamin C might possibly contribute to elevated HGA levels as it increases tyrosine synthesis.

4) physical activity such as swimming will help alkaptonuria patients to maintain bone and muscle strength. However, high impact sports such as weight lifting should be avoided as it can further damage the bones.


WHY IS THERE NO FISH IN THIS POND !!!!

OK GUYS !! HOPE U GUYS ENJOYED OUR BLOG!! HAVE A GREAT YEAR AHEAD!!

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