Q: About a wine colored urine


 

 

(I-08) M.C., 15 year-old, go to your office complaining of abdominal pain and wine coloured urine His mother tells you privately that after puberty he has shown signs of anxiety, paranoia and depression. He began lately to ride horses, and she thinks that maybe the actual signs (abdominal pain and colored urine) are related to it. She has heard that some old relatives have shown similar characteristics. Hemoglobin Electrophoresis shows HbA and A2. Hb concentration is something low. Urine test shows increased Delta-amino levulinic acid and porphobilinogen. With all this information your presumptive diagnosis is:

 

a)     a urea cycle disorder

b)     Phenylketonuria

c)      a Porphyria

d)     a Hemoglobinopathy

e)     a Glycogen Storage Disease

f)       iron deficit anemia

g)     polycystic kidney

 

 

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