(F) Newborn Screening 2

Question 1

severe deficiency of PAH (Phenul Alanine Hydroxylase)

Answer 1

PHENYLKETONURIA (PKU)

Question 2

In minority of cases, the one enzyme that is deficient is?

Answer 2

Dihydropteridine reductase (DHPR).

Question 3

In majority of cases, the one that is deficient is?

Answer 3

Phenylalanine hydroxylase

Question 4

PKU

The Dihydrobiopterin is recycled and eventually reconverted to Tetrahydrobiopterin in a reaction that is catalyzed by

Answer 4

Dihydropteridine reductase (DHPR)

Question 5

PKU

TOF. 2% due to abnormalities in synthesis or recycling of tetrahydrobipterin.

Answer 5

(F) dihydrobiopterin

True dapat

pero nirerecycle pa rin yung Dihydrobiopterin is recycled para ireconvert siya into tetra

Question 6

PKU

(+) Present in urine and sweat, making these fluids smell with a musty or mousy odor, except:
A. phenylpyruvic acid
B. phenylacetic acid
C. o-hydroxyphenylacetic acid
D. phenyllatic acid
E. propionic acidemia

Answer 6

E

Question 7

PKU

The formation of acids present in urine and sweat is a pathway called?

Answer 7

Minor shunt pathway

Question 8

PKU

TOF. Patients appear at Normal at birth → Mental
Retardation at 10 years of age

Answer 8

F (6 months)

Question 9

PKU

The skin is prone to develop?

Answer 9

eczema

Question 10

PKU

Treatment

Answer 10

Restriction of phenylalanine intake; gene therapy

Question 11

Most common condition among Newborn Screening (NBS) panel of disorders.

Answer 11

G6PD Deficiency

Question 12

G6PD

Patients can have Episodic hemolytic anemia from
exposure to oxidative substances which are the following except:
A. sulfonamides
B. nitrofurantoins
C. antimalarials
D. primaquine, and chloroquine
E. NOTA

Answer 12

E

Question 13

G6PD

Trigger Foods?

Answer 13

Most frequent fava beans

Question 14

While waiting for the test result, parents should not expose their child to?

Answer 14

mothballs

can trigger hemolysis in those with G6PD deficiency

Question 15

Glucose-6-PO4 dehydrogenase (G6PD) reduces Nicotinamide adenine dinucleotide phosphate (NADP) to?

Answer 15

NADPH

Question 16

G6PD

NADPH converts Glucose-
6-phosphate to?

Answer 16

6-Phosphogluconate

Question 17

G6PD

This provides reducing equivalence needed for the conversion of Oxidized glutathione (GSSG) to Reduced glutathione (GSH).

Answer 17

NADPH

Question 18

G6PD

NADPH protexts against injury by catalyzing the breakdown of compounds, such as?

Answer 18

Hydrogen peroxide (H2O2, Agua Oxinada) to water (H2O)

Question 19

MSUD (AD, AR, X)

Inheritance pattern

Answer 19

AR

Question 20

The MAPLE SYRUP URINE DISEASE (MSUD) os a deficiency of?

Answer 20

a-ketoacid dehydrogenase complex

Question 21

MSUD

ketoacid dehydrogenase complex is for the metabolism of? which is harmful to the brain and can cause urine to smell like maple or burnt sugar.

Answer 21

leucine, isoleucine and valine

Question 22

Test

the newborns are tested for many potentially fatal and harmful metabolic abnormalities which are not manifested at birth using a single test

Answer 22

Expanded newborn screening

Question 23

Newborn screening can be done using:
A. Urine
B. Sputum
C. Blood
D. A & B
E. A & C

Answer 23

E

Question 24

Conditions

o Congenital Adrenal Hyperplasia
o Congenital Hypothyroidism

A. ORGANIC ACIDS
B. AMINO ACID DISORDERS
C. ENDOCRINE DISORDERS
D. FATTY ACIDS
E.THALASSEMIAS AND HEMOGLOBINOPATHIES

Answer 24

C

Question 25

o Maple Syrup Urine Deficiency o Phenylketonuria (PKU) A. ORGANIC ACIDS B. AMINO ACID DISORDERS C. ENDOCRINE DISORDERS D. FATTY ACIDS E.THALASSEMIAS AND HEMOGLOBINOPATHIES

Answer 25

B

Question 26

o Homocystinuria o Hypermethioninemia / Methionine Adenosine Transferase Deficiency A. ORGANIC ACIDS B. AMINO ACID DISORDERS C. ENDOCRINE DISORDERS D. FATTY ACIDS E.THALASSEMIAS AND HEMOGLOBINOPATHIES

Answer 26

B

Question 27

o Glutaric Aciduria Type 1 o -ketothiolase deficiency o Multiple carboxylase deficiency A. ORGANIC ACIDS B. AMINO ACID DISORDERS C. ENDOCRINE DISORDERS D. FATTY ACIDS E.THALASSEMIAS AND HEMOGLOBINOPATHIES

Answer 27

A

Question 28

o Hyperphenylalaninemia o 6-PTPS Deficiency o Tyrosinemia Type I o Tyrosinemia Type II, III A. ORGANIC ACIDS B. AMINO ACID DISORDERS C. ENDOCRINE DISORDERS D. FATTY ACIDS E.THALASSEMIAS AND HEMOGLOBINOPATHIES

Answer 28

B

Question 29

o Propionic acidemia (PA) o Methylmalonic acidemia (MMA) o Isovaleric acidemia (IVA) o 3-Methylcrotnyl CoA Carboxylase Deficiency A. ORGANIC ACIDS B. AMINO ACID DISORDERS C. ENDOCRINE DISORDERS D. FATTY ACIDS E.THALASSEMIAS AND HEMOGLOBINOPATHIES

Answer 29

A

Question 30

o Medium chain acyl-CoA dehydrogenase (MCAD) deficiency o Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency A. ORGANIC ACIDS B. AMINO ACID DISORDERS C. ENDOCRINE DISORDERS D. FATTY ACIDS E.THALASSEMIAS AND HEMOGLOBINOPATHIES

Answer 30

D

Question 31

o Carnitine palmytoyltransferase types 1 and 2 o Carnitine Uptake Defect o Glutaric Aciduria Type 2 o Trifunctional Protein Deficiency A. ORGANIC ACIDS B. AMINO ACID DISORDERS C. ENDOCRINE DISORDERS D. FATTY ACIDS E.THALASSEMIAS AND HEMOGLOBINOPATHIES

Answer 31

D

Question 32

o Hemoglobin E Disease o Hemoglobin C Disease o Hemoglobin D Disease o Sickle Cell Disease A. ORGANIC ACIDS B. AMINO ACID DISORDERS C. ENDOCRINE DISORDERS D. FATTY ACIDS E.THALASSEMIAS AND HEMOGLOBINOPATHIES

Answer 32

E

Question 33

o Hemoglobin E Trait or HBFAE o Hemoglobin D Trait or HBFAD o Sickle Cell Trait or HBFAS A. ORGANIC ACIDS B. AMINO ACID DISORDERS C. ENDOCRINE DISORDERS D. FATTY ACIDS E.THALASSEMIAS AND HEMOGLOBINOPATHIES

Answer 33

E

Question 34

o Argininosuccinic Aciduria o Citrullinemia A. ORGANIC ACIDS B. AMINO ACID DISORDERS C. UREA CYCLE DEFECTS D. FATTY ACIDS E.THALASSEMIAS AND HEMOGLOBINOPATHIES

Answer 34

C

Question 35

# NBS Process The process involves taking a few drops of blood from baby’s heel are collected when?

Answer 35

24 hours after birth

Question 36

# NBS Process The blood sample is placed on a special filter paper to dry. ## Footnote This process is called?

Answer 36

Blotting

Question 37

# NBS Process Results are available by how many days?

Answer 37

7-14 working days from the time samples are received at NBS center

Question 38

# NBS results Negative screen means?

Answer 38

newborn is normal

Question 39

# NBS results Positive results mean?

Answer 39

OH NO ## Footnote this should be immediately relayed to the parents by health facility and newborn is asked to be brought back to physician for further testing such as confirmatory testing

Question 40

# NEWBORN SCREENING PROCESS LABORATORY METHODS Can detect 25-30 different biochemical genetic diseases.

Answer 40

Tandem Mass Spectrometry

Question 41

# NEWBORN SCREENING PROCESS LABORATORY METHODS Amino acids and acylcarnithines

Answer 41

TMS

Question 42

# NEWBORN SCREENING PROCESS LABORATORY METHODS For Thyroid hormones in Congenital hypothyroidism

Answer 42

Immunoassays

Question 43

# NEWBORN SCREENING PROCESS LABORATORY METHODS A congenital adrenal hyperplasia, 17- hydroprogesterone (CAH)

Answer 43

Immunoassays

Question 44

# NEWBORN SCREENING PROCESS LABORATORY METHODS For Hemoglobinopathies (In Expanded NBS)

Answer 44

Isoelectric Focusing

Question 45

# NEWBORN SCREENING PROCESS LABORATORY METHODS For Cystic fibrosis and severe combined immunodeficiency if it will be included in the future.

Answer 45

Molecular Techniques

Question 46

# ROLES OF HEALTH PRACTITIONERS TOF. Physicians, nurses, medical technologists, phlebotomists, and trained midwives may get the blood sample.

Answer 46

T

Question 47

# NEWBORN SCREENING PROCESS LABORATORY METHODS