IEM

Topic: IEM-8

Posted on: November 24, 2016

36 years old male presented with joint pain in both knees and ankles.
He also had bluish colouration of his ears and a bluish colouration of the
sclera of left eye. On questioning by an astute physician he revealed that
his urine turns dark blue after some interval in the bowl.

Lab investigations revealed:

Plasma Amino acids by HPLC : All amino acids including tyrosine are
within reference interval.

a. What is the most probable diagnosis?

b. Name the urine test that can be used for confirmation of the
disease

 

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