Phenylketonuria and Alkaptonuria — MCQs

Ochronosis is due to the accumulation of?

In phenylketonuria, which substance should be restricted in the diet?

In alkaptonuria, deficiency is:

A patient presents with ochronosis. Which of the following substance accumulates in this condition?

A patient reports a change in colour of urine on air exposure. All are true about the condition shown below except:

A 4-year-old boy of a first-degree consanguineous couple was noted by the parents to have darkening of the urine to an almost black color when it was left standing. He has a normal sibling, and there are no other medical problems. Growth and development to date are normal. Which of the following is most likely to be elevated in this patient?

A patient complains of knee pain. Routine investigations are unremarkable and still, the patient is unsatisfied. Urine turns black on standing, what is the enzyme involved?

VMA is excreted in urine in which condition -

Coenzyme for phenylalanine hydroxylase is?

What is the diagnosis in a patient who presents with nausea and vomiting, initially responds to intravenous glucose, but later develops increased blood glutamine and orotic acid levels?