Alkoptoneuria genetic disease ( black urine disease)

Description 

Alkoptoneuria is genetic disorders that caused due to fault in HGD gene. Alkoptoneuria is rare sex linked disease.
The patient that is suffered from alkoptoneuria produce black urine.The black urine is produced due to lack of enzyme that is coded with HGD gene. When enzyme lack breaks down of amino acid not take place and amino acids aggregate in body when urune excrete change into black colour due to oxidation Snow leopard mcqs

SYMPTOMS 

1. First SYMPTOMS of this disease is black urine production 
2 patient scelera has black spot 
3. Heart valve become hard.
4 . Start pain in joint 

Alkoptoneuria is diseases that is caused due to HGD gene defect  

The treatment for alkoptoneuria is test for urine HGA is gold standard test and secretion AKU is screated every day is 1 to 8 gram 
If patients feel pain surgery is also done to remove joint 
If heart valve become hard or block heart surgery is done 

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Alkoptonuria genetic disease 
Black urine disease 
Alkoptoneuria disease 

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