A newborn child has dark urine upon contact with air, dark skin pigmentation and sclera, osteoarthritis, nephrolithiasis, hoarseness and dysphagia. There are a large amount of homogentisic acid in the urine. Name the disease:



(Name the disease)Alcaptonuria



Homogentisic acid oxidase



Tyrosine

Comments

Popular posts from this blog

A 3 year old child had a severe viral illness, a few days later there were repeated vomiting, loss of consciousness and convulsions. Laboratory blood tests revealed hyperammonemia.