Alkaptonuria

Question 1

Alkaptonuria is also known as…

Answer 1

ochronosis

Question 2

Inheritance

Answer 2

Autosomal recessive

Question 3

Alkaptonuria is a disorder of phenylalanine and tyrosine metabolism caused by a lack of what enzyme?

Answer 3

homogentisic dioxygenase (HGD)

=> causes build-up of toxic homogentisic acid.

Question 4

homogentisic acid is filtered by the kidneys and causes urine to go what colour?

Answer 4

black

Question 5

The kidneys are usually able to remove all of the toxic homogentisic acid from the body. TRUE/FALSE?

Answer 5

FALSE
- begins to build up in organs

Question 6

Patients with alkaptonuria are usually aysmptomatic. TRUE/FALSE?

Answer 6

TRUE

Question 7

Possible symptoms

Answer 7

pigmented sclera
urine turns black if left exposed to the air
intervertebral disc calcification => back pain
renal stones

Question 8

Treatment of alkaptonuria

Answer 8

high-dose vitamin C
dietary restriction of phenylalanine and tyrosine