Amino acid metabolism and disorders — Flashcards

Flashcard 41: What is the usual amino acid pattern of collagen?

Answer: Gly-X-Y where X and Y are proline or lysine

Flashcard 42: Where does the cross-linking step of collagen synthesis occur?

Answer: extracellular space

Flashcard 43: Where does the proteolytic processing step of collagen synthesis occur?

Answer: extracellular space

Flashcard 44: Where does the hydroxylation step of collagen synthesis occur?

Answer: ER

Flashcard 45: What is the function of the proteasome?

Answer: degrades proteins tagged with ubiquitin

Flashcard 46: orotic aciduria

Answer:

Extra: inability to convert orotic acid to UMPfailure to thrive in newbornmegaloblastic anemia (not improved by B12 or folate), increased orotic acid in urine, NO hyperammonemiaoral uridine AR UMP synthase

Flashcard 47: Which amino acids are necessary for de novo pyrimidine synthesis?

Answer: aspartate

Flashcard 48: Which amino acids are necessary for de novo purine synthesis?

Answer: Glycine, Aspartate, Glutamaine mnemonic: GAG

Flashcard 49: adenosine deaminase deficiency

Answer:

Extra: build-up of ATP/dATP in cellsrecurrent infections in infant, SCIDleukopenia AR adenosine deaminase (ADA)