Types of Aminoaciduria

Question 1

Due to homogentisic acid oxidase deficiency

Answer 1

Alkaptonuria

Question 2

Due to phenylalanine hydroxylase deficiency

Answer 2

PKU

Question 3

Due to abnormality involving branched-chain amino acids

Answer 3

MSUD

Question 4

Identified by brown-black urine on alkalization

Answer 4

Alkaptonuria

Question 5

Confirmed by chromatographic assay

Answer 5

All of the above

Question 6

Screened by nitrosonaphthol method

Answer 6

Tyrosinuria

Question 7

Screened by cyclohexylsulfamic acid-containing reagent

Answer 7

PKU

Question 8

Screened via phenistix

Answer 8

PKU

Question 9

Screened via FeCl3 and AgNO3 tests

Answer 9

Alkaptonuria

Question 10

Screened via characteristic caramelized sugar odor of urine

Answer 10

MSUD

Question 11

Characterized by a mousy odored urine

Answer 11

PKU

Question 12

Characterized by formation of silky black needles in urine

Answer 12

Tyrosinuria

Question 13

Characterized by formation of hexagonal crystals

Answer 13

Cystinuria

Question 14

Screened via dinitrophenylhydrazine testing

Answer 14

MSUD

Question 15

Characterized by mental retardation

Answer 15

PKU