RA 9288

Question 1

law promulgating a comprehensive policy and national system ensuring NBS

Answer 1

RA 9288

Question 2

process of collecting a few drops from newborn

Answer 2

Newborn Screening

Question 3

examination that increases the coverage of NBS panel from 6-28 types of congenital disorders

Answer 3

Expanded Newborn Screening (ENBS)

Question 4

NBS shall be performed ____

Answer 4

after 24 hrs but not later than 3 days

Question 5

any congenital trait that can result in mental retardation, physical deformity, or death if left undetected

Answer 5

heritable condition

Question 6

Specimen of choice

Answer 6

whole blood

Question 7

defects that involve errors in production of endocrine hormones

Answer 7

Endocrine Disorders

Question 8

2 Endocrine Disorders

Answer 8

Congenital hypothyroidism
Congenital Adrenal Hyperplasia

Question 9

disorder resulting from Thyroid Dysgenesis that affects thyroid production

Answer 9

Congenital hypothyroidism

Question 10

defects that involve errors in amino acid metabolism

Answer 10

Amino Acid Disorders

Question 11

disorders resulting from enzymatic defects in biosynthesis of steroid

Answer 11

Congenital Adrenal Hyperplasia

Question 12

cystathionine B-synthase deficiency

Answer 12

Homocystinuria (Hcy)

Question 13

abnormal elevation of plasma methionine

Answer 13

MAT deficiency

Question 14

defect or deficiency of ketoacid dehydrogenase complex

Answer 14

Maple Syrup Urine Disease (MSUD)

Question 15

phenylalanine cant be converted to tyrosine, phenylalanine hydroxylase deficiency

Answer 15

Phenylketonuria

Question 16

fumarylacetoacetase deficiency

Answer 16

Tyrosinemia type 1

Question 17

tyrosine aminotransferase deficiency

Answer 17

Tyrosinemia type 2

Question 18

deficiency or absence of enzymes needed for beta oxidation

Answer 18

fatty acid oxidation disorders

Question 19

lack of CPT1

Answer 19

CPT1 deficiency

Question 20

lack of CPT2

Answer 20

CPT2 deficiency

Question 20

carnitine transporter deficiency

Answer 20

Carnitine Uptake Deficiency (CUD)

Question 21

defects in flavoproteins

Answer 21

Glutaric Acidemia Type 2 (GA2)

Question 22

mutations in HADHA gene

Answer 22

LCHADD

Question 23

most common defect and cause SIDS

Answer 23

MCADD

Question 24

more severe condition

Answer 24

VLCAD

Question 25

decreased activity of all three enzymatic components

Answer 25

Tri-functional protein deficiency

Question 26

6 Amino acid disorders

Answer 26

Homocystinuria MAT Phenylketonuria MSUD Tyrosinemia 1 Tyrosinemia 2

Question 27

8 Fatty acid oxidation disorders

Answer 27

CPT1D CPT2D CUD GA2 LCHADD MCADD VLCAD Tri-functional protein deficiency

Question 28

deficiency or absence of enzymes needed in breaking down specific proteins

Answer 28

Organic Acidurias

Question 29

disorder of leucine metabolism

Answer 29

3MCCD

Question 30

defect of mitochondrial acetoacetyl CoA thiolase

Answer 30

beta ketothiolase deficiency

Question 31

deficiency of glutaryl-coa dehydrogenase

Answer 31

Glutaric acidemia type 1

Question 32

deficiency of isovaleryl coa dehydrogenase

Answer 32

isovaleric acidemia (IVA)

Question 33

defect in metholmalonyl coA mutase

Answer 33

Methylmalonic acidemia MMA

Question 34

caused by holocarboxylase synthetase enzyme

Answer 34

Multiple Carboxylase Deficiency MCD

Question 35

6 ORGANIC ACIDURIAS

Answer 35

3MCCD Beta ketothiolase deficiency Glutaric Acidemia type 1 Isovaleric Acidemia (IVA) Methylmalonic acidemia (MMA) Multiple Carboxylase Deficiency (MCD)

Question 36

main pathway that the body uses to eliminate excess nitrogen

Answer 36

Urea cycle

Question 37

deficiency of arginosuccinate synthetase

Answer 37

Citrullinemia

Question 38

structural abnormalities and usually due to single amino acid substitution

Answer 38

Hemoglobinopathies

Question 39

decreased production in a or b globin chains

Answer 39

Thalassemias

Question 40

deletion of a globin gene

Answer 40

a thalassemia

Question 41

total absence of B chain production

Answer 41

b thalassemia

Question 42

occurs in patients with predominant hbS

Answer 42

sickle cell disease

Question 43

rare metabolic genetic disorder that is inherited in autosomal recessive manner. Inborn error of carbohydrate metabolism, elevated galactose

Answer 43

Galactosemia

Question 44

genetic abnormality resulting in inadequate or decreased production of G6PD - leading to hemolytic anemia

Answer 44

G6PD deficiency

Question 45

progressive genetic disease that cause persistent lung infections and limits ability to breathe

Answer 45

Cystic Fibrosis

Question 46

health facility that educates parents abouts NBS during prenatal period

Answer 46

Newborn Screening Facility

Question 47

facility equipped with NBS laboratory that complies with standards established

Answer 47

Newborn screening Center (NSC)

Question 48

facility identified by DOH, performs confirmatory testing to ensure accuracy of screening results

Answer 48

Newborn Confirmatory Center (NBCC)

Question 49

central facility at NIH that defines testing and follow up protocols

Answer 49

newborn screening reference center (NSFC)

Question 50

refers to ambulatory clinic based in tertiary hospital and identified by DOH

Answer 50

Newborn Screening COntinuity Clinic