Amino Acids

Question 1

Cystinuria

Answer 1

CystINE not absorbed. red/brown urine. calculi in urine: Urolitiasis.

Treatment: lower Cysteine and Methionine. increase fluid. drugs INCREASE pH…increase Cysteine solubility.

Question 2

PKU (phenylketonuria)

Answer 2

IEM. Phenylalanine Hydroxylase (PAH) def. Phe elevated in urine. MUSTY ODOR. mental retardation, neuro damage
NO PAH activity.

Treatment: low Phe intake.

Question 3

Nonclassical PKU

Answer 3

defect in TBH…hyperphenylalaninemia. some PAH activity

Treatment: low Phe intake. Kuvan: synthetic THB