Urine Metabolic Disorders

Question 1

Overflow type Aminoaciduria

Answer 1

PKU
MSUD
Cystinosis

Question 2

Renal type aminoaciduria

Answer 2

Cystinuria
Fanconi syndrome

Question 3

The most well known aminoaciduria, may lead to severe mental retardation
‘‘MOUSY urine SWEAT and BREATH odor

Answer 3

Phenylketonuria

Question 4

Screening test for phenylketonuria

Answer 4

Guthrie Bacterial Inhibition test
FeCl3 tube test
Phenistrix strip

Question 5

(-) gene that codes for Fumarylacetoacetate hydrolase (FAH), also seen in severe liver disease

Answer 5

Tyrosyluria/ Tyrosinemia

Question 6

Confirmatory test for Phenyketonuria

Answer 6

Ion Exchange HPLC

Question 7

Screening test for Tyrosyluria

Answer 7

FeCl3 tube test: +Transient green
Nitroso-naphthol: + orange-red

Question 8

Confirmatory test for Tyrosyluria

Answer 8

Chromatography
Quantitative serum assay of tyrosine

Question 9

Alkaptonuria caused by lack of gene that codes for

Answer 9

Homogentisic acid oxidase

Question 10

Brown or black-stained cloth diaper, urine darkens after standing at RT, reddish-stained disposable (plastic diapers

Answer 10

Alkaptonuria

Question 11

Tumor secretes 5-6-dihydroxyindole, urine darkens upon Air exposure

Answer 11

Malanuria

Question 12

Screening test for alkaptonuria

Answer 12

FeCl3 tube test: Transient blue
Clinitest: Yellow precipitate
Silver nitrate: Black color

Question 13

Confirmatory test for alkaptonuria

Answer 13

Paper/thin layer chromatography
Capillary electrophoresis
GC-MS

Question 14

Melanuria Screening test

Answer 14

FeCl3 tube test: Gray/Black ppt
Sodium Nitroprusside test: Red
Ehrlich test: Red

Question 15

Most common IEM in Philippines
^ ketoacids of LEUCINE, ISOLEUCINE, VALINE
(-) gene that codes for (BCKD)

Answer 15

MSUD

Question 16

Screening test for MSUD

Answer 16

2-4- dinitrophenylhydrazine (DNPH): + Yellow Turbidity/Precipitate

Question 17

'’SWEATY FEET’’ urine odor due to Isovaleryglycine

Answer 17

Isovaleric acidemia

Question 18

What is the Positive reaction of Methylmalonic acidemia detected using p-nitroaniline test

Answer 18

Emerald green color

Question 19

Indigo blue urine color upon air exposure

Answer 19

indicanuria

Question 20

Tumor of argentaffin or enterochromaffin cells produce serotonin metabolized into

Answer 20

5-HIAA

Question 21

Argentaffinoma Screening test

Answer 21

FeCl3 tube test: Blue-Green
Nitrosonaphthol with Nitrous acid: Violet

Question 22

Renal tyoe of aminoaciduria, which has defective tubular reabsorption of ‘‘COLA’’

Answer 22

Cystinuria

Question 23

tests for Cystinuria and Cystinosis

Answer 23

Brand’s Modification of Legal Nitroprusside
Ion-exchange chromatography
Molecular genetics testing

Question 24

Positive results for Brand’s modification of Legal nitroprusside

Answer 24

Red-Purple Color

Question 25

Negative gene that codes for an enzyme responsible for cystine metabolism Types= Nephropathic, Intermediate, Ocular cystinosis

Answer 25

Cystinosis

Question 26

Defect in the metabolism of methionine (-) gene that codes for Cystathione B-synthase

Answer 26

Homocystinuria

Question 27

Silver-Nitroprusside test is used to detect Homocystinuria, what is the positive color?

Answer 27

Red-Purple

Question 28

urine color in Porphyrias

Answer 28

RED/ PURPLE/ BURGUNDY-RED/ PORTWINE

Question 29

Test for UROPORPHYRIN, COPROPORPHYRIN, PROTOPORPHYRIN

Answer 29

Fluorescence at 550-600 nm (+) Violet, Pink, Red Fluorescence

Question 30

CDC recommended test for Lead Poisoning

Answer 30

Free Erythrocyte Proptoporp (FEP)

Question 31

Detects D-ALA, PBD

Answer 31

Ehrlichs reaction

Question 32

Enzyme deficient in Congenital erythropoietic porphyria

Answer 32

uroporphyrinogen cosynthase

Question 33

Gargoylism/ MPS Type I accumulate in the CORNEA of the eye

Answer 33

Hurler Syndrome

Question 34

MPS Type II (Prominent Cheekbone) Sex-linked recessive, rarely in FEMALES

Answer 34

Hunter Syndrome

Question 35

Mental retardation is the oNLY abnormality

Answer 35

Sanfilipo syndrome

Question 36

MPS DISORDER Screening tests

Answer 36

Acid Albumin and 5% CTAB (+ White Turbidity) MPS Paper test (Spot test) + Blue color

Question 37

(-) gene that codes for Hypoxanthine Guanine Phosphoribosyltransferase

Answer 37

Lesch-Nyhan Syndrome