Amino Acids

Question 1

PKU- Overflow

Answer 1

Enzyme deficiencies cause a phenylalanine increase in blood and phenyl components in urine; from an Overflow of plasma levels above the renal threshold

Question 2

PKU-Renal

Answer 2

Plasma levels are normal, but renal threshold/reabsorption is lowered, multiple Amino Acids increased in urine

Question 3

Amino Acid Screening Tests

Answer 3

Thin Layer chromotography, Urine color tests, Guthrie microbiological test

Question 4

Quantitative Tests

Answer 4

Ion-exchange chromotography, HPLC, Gas Chromotography Mass Spectrophotometry

Question 5

Homocysteine

Answer 5

Increased levels assoc. with risk of brain and cardiovascular problems or in Vit B6/12 and Folic Acid deficiencies