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: Hyperammonemia type 1 occurs due to deficiency of the enzyme _____

Answer: CPS-1

Flashcard 6: Phenylketonuria can be treated by large neutral amino acid supplementation, or use of commercially available BH4 also called as _____

Answer: Sapropterin

Flashcard 7: HHH syndrome occurs due to the deficiency of the mitochondrial transporter _____

Answer: Ornithine transporter (also known as Ornithine permease)

Extra: HHH syndrome stands for Hyperammonemia, Hyperornithinemia, and Homocitrullinuria. It is caused by a defect in the mitochondrial ornithine transporter (ORNT1), encoded by the SLC25A15 gene.

Flashcard 8: Ornithine transcarbamylase (OTC) deficiency presents with hyperammonemia and increased _____.

Answer: orotic acid

Flashcard 9: pulses are deficient in _____ amino acids

Answer: cysteine and methionine

Extra: 

Flashcard 10: Cereals are deficient in _____ amino acids

Answer: threonine and lysine