USMD

Question 1

most well known aciduria

Answer 1

Phenylketonuria

Question 2

gene for phenylketonuria

Answer 2

phenylalanine hydroxylase

Question 3

odor of phenylketonuria

Answer 3

mousy

Question 4

Screening tests of p

Answer 4

Fel3 tube test; Phenistix strip; Gutrie Bacterial Inhibition test

Question 5

confirmatory test of p

Answer 5

ion exchange HPLC

Question 6

bacteria for phenylketurnuria

Answer 6

B. subtilis

Question 7

B. subtilis is cultured with

Answer 7

Beta2 thienylalanine `

Question 8

FeCl3 tube test positive color

Answer 8

green-blue

Question 9

Phiniestix test positive color

Answer 9

gray to gray-green

Question 10

Tyrosenemia, a metabolic disorder gene (-) codes for

Answer 10

Type I-fumarylacetoacetate hydrolase (FAH); Type II-tyrosine aminotransferase; Type III-p-hydroxyphenylpyruvic acid dioxygenase

Question 11

odor of tyrosenemia

Answer 11

rancid butter

Question 12

gene that codes for Alkaptonuria; darkens in RT

Answer 12

homogentisic acid

Question 13

color of Alkaptonuria in cloth diaper

Answer 13

brown-black

Question 14

color of alkaptonuria in disposable diaper

Answer 14

red

Question 15

caused by proliferation of tumors

Answer 15

melanuria

Question 16

most common IEM in Philippines

Answer 16

Maple Syrup Urine Disorder (MSUD)

Question 17

odor of MSUD

Answer 17

curry/maple syrup/caramelized sugar

Question 18

genes codes of MSUD

Answer 18

valine,isoleucine,leucine

Question 19

organic acidemia (isovaleric) odor

Answer 19

sweaty feet

Question 20

positive color for methylmalonic acidemia

Answer 20

emerald green

Question 21

this is due to intestinal disorder

Answer 21

indicanuria

Question 22

blue diaper syndrome

Answer 22

hatnup disease

Question 23

urine color of indicanuria

Answer 23

indigo blue

Question 24

increased 5-HIAA

Answer 24

ARGENTAFFINOMA

Question 25

foods that argentafinnoma avoid

Answer 25

banana, pineapple,tomato

Question 26

defect in renal tubular cells; COLA (cystine, ornithine,leucine,arginine)

Answer 26

cystinuria

Question 27

inborn error of metabolism where cystine deposit in other parts of the body

Answer 27

cystinosis

Question 28

defect in methionine

Answer 28

homocystinuria

Question 29

inherited disorder which results in accumulation of incompletely metabolized polysaccharide portions in the lysosomes of connective tissue cells and increased excretion of urine

Answer 29

mucopolysaccharidosis

Question 30

hurler

Answer 30

mucopolysaccharide accumulate in cornea; skeletal structure abnormality and severe mental retardation

Question 31

hunter

Answer 31

skeletal structure abnormality and severe mental retardationq

Question 32

sanfillipo

Answer 32

mental retardation only