Phenylketonuria and Alkaptonuria — Flashcards

Flashcard 1: People with a genetic deficiency of _____ present with hypermethioninemia

Answer: L-methionine adenosyltransferase

Flashcard 2: Type _____ maple syrup urine disease (MSUD) results from the mutation in the genes encoding dihydrolipoyl transacylase.

Answer: II

Flashcard 3: What enzyme deficiencies may cause homocystinuria? _____ and methionine synthase deficiencies

Answer: Cystathionine synthase

Flashcard 4: Urine FeCl3 test done for PKU detects the presence of _____

Answer: Phenylpyruvate

Flashcard 5: _____ may be converted to tyrosine via the enzyme phenylalanine hydroxylase (with tetrahydrobiopterin as a cofactor)

Answer: Phenylalanine

Flashcard 6: In addition to enzyme deficiencies, homocystinuria may be caused by decreased affinity of _____ for pyridoxal phosphate (B6, active form)

Answer: cystathionine synthase

Flashcard 7: Phenylalanine levels are _____ in a patient of Segawa syndrome, after a phenylalanine loading test (100mg/kg)

Answer: increased

Flashcard 8: pulses are deficient in _____ amino acids

Answer: cysteine and methionine

Extra: 

Flashcard 9: Cereals are deficient in _____ amino acids

Answer: threonine and lysine

Flashcard 10: Taurine is essential for _____ and retinal development in preterm infants.

Answer: axonal growth