Tuesday 15 January 2013

Diagnosis & Management of Tyrosinemia [TYPE 3]

We have one last content post for you guys!
Diagnosis and Treatment of Tyrosinemia Type III!

Diagnosis
  • Elevated levels of tyrosine in plasma
  • Increased excretion of tyrosine metabolites such as 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate
  • Enzyme assay of liver or kidney biopsy
  • Mutation analysis
4-hydroxyphenylacetate

Management 
1) Dietary restrictions
  • Reduce intake of phenylalanine and tyrosine in diet
  • However, it is unknown whether lowering the tyrosine levels in plasma can alter the natural history of intellectual disability
We hope you guys have enjoyed learning with us for the past two weeks and have taken back something useful from this blog!
It was a joy to do this project, and sharing our new found knowledge with everyone!
See you~ ^_^

Monday 14 January 2013

Symptoms & Complications of Tyrosinemia [TYPE 3]

It's Monday morning! 
How many of you are feeling the Monday blues like the two us? We are both feeling rather cranky today oh no. But that doesn't stop us from publishing our daily post! 
Presenting~ the Symptoms and Complications of Tyrosinemia Type III!

Symptoms

  • Intellectual disability
  • Seizures
  • Periodic loss of balance and coordination (Intermittent ataxia)
  • Increased tendon reflexes 
 Complications
  • Intellectual disability (in 75% of reported cases)
So short and sweet right? Haha we are so sorry because it was difficult to find substantial information regarding Type III as it is extremely rare. But do take note of the symptoms! They are rather different from those of Type I and Type II!

Sunday 13 January 2013

Biochemistry of Tyrosinemia [TYPE 3]

Good afternoon! :)
How was your weekend so far? Hope it has been great for you!
Now, we are going to learn about the biochemistry of Type III Tyrosinemia today!
Yes it's the last type! Woohoo~




The HPD enzyme, which is found in the kidneys and liver, is responsible for converting 4-hydroxyphenylpyruvate into homogentisate in the catabolic pathway of tyrosine. The deficiency of HPD enzyme will result in accumulation of 4-hydroxyphenylpyruvate and its metabolites in the organs.

This is  one of our last few posts because we are running out of knowledge to share with you guys regarding Tyrosinemia... :(
Do continue to check back daily though~ We still have a bit more to share!