Disorders of Urea Cycle — Flashcards

Flashcard 1: What is the most common acquired cause for increased plasma tyrosine levels?_____

Answer: Transient tyrosinemia of the newborn

Flashcard 2: Carbamoyl phosphate synthetase I deficiency presents with _____ NH4+ and hyper-ammonemia

Answer: increased

Flashcard 3: People with a genetic deficiency of _____ present with hypermethioninemia

Answer: L-methionine adenosyltransferase

Flashcard 4: Urea has two nitrogen molecules, one from _____ and one from aspartate

Answer: NH3

Flashcard 5: Phenylketonuria can be treated by large neutral amino acid supplementation, or use of commercially available BH4 also called as _____

Answer: Sapropterin

Flashcard 6: Ornithine transcarbamylase (OTC) deficiency presents with hyperammonemia and increased _____.

Answer: orotic acid

Flashcard 7: pulses are deficient in _____ amino acids

Answer: cysteine and methionine

Extra: 

Flashcard 8: Cereals are deficient in _____ amino acids

Answer: threonine and lysine

Flashcard 9: Taurine is essential for _____ and retinal development in preterm infants.

Answer: axonal growth

Flashcard 10: Breast milk is rich in _____, which are conditionally essential amino acids in neonates.

Answer: cysteine and taurine