Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MT LAWS FINALS > RA 9288 > Flashcards

RA 9288 Flashcards

1
Q

law promulgating a comprehensive policy and national system ensuring NBS

A

RA 9288

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

process of collecting a few drops from newborn

A

Newborn Screening

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

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

A

Expanded Newborn Screening (ENBS)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

NBS shall be performed ____

A

after 24 hrs but not later than 3 days

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

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

A

heritable condition

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Specimen of choice

A

whole blood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

defects that involve errors in production of endocrine hormones

A

Endocrine Disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

2 Endocrine Disorders

A

Congenital hypothyroidism
Congenital Adrenal Hyperplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

disorder resulting from Thyroid Dysgenesis that affects thyroid production

A

Congenital hypothyroidism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

defects that involve errors in amino acid metabolism

A

Amino Acid Disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

disorders resulting from enzymatic defects in biosynthesis of steroid

A

Congenital Adrenal Hyperplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

cystathionine B-synthase deficiency

A

Homocystinuria (Hcy)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

abnormal elevation of plasma methionine

A

MAT deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

defect or deficiency of ketoacid dehydrogenase complex

A

Maple Syrup Urine Disease (MSUD)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

phenylalanine cant be converted to tyrosine, phenylalanine hydroxylase deficiency

A

Phenylketonuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

fumarylacetoacetase deficiency

A

Tyrosinemia type 1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

tyrosine aminotransferase deficiency

A

Tyrosinemia type 2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

deficiency or absence of enzymes needed for beta oxidation

A

fatty acid oxidation disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

lack of CPT1

A

CPT1 deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

lack of CPT2

A

CPT2 deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

carnitine transporter deficiency

A

Carnitine Uptake Deficiency (CUD)

21
Q

defects in flavoproteins

A

Glutaric Acidemia Type 2 (GA2)

22
Q

mutations in HADHA gene

A

LCHADD

23
Q

most common defect and cause SIDS

A

MCADD

24
Q

more severe condition

A

VLCAD

25
Q

decreased activity of all three enzymatic components

A

Tri-functional protein deficiency

26
Q

6 Amino acid disorders

A

Homocystinuria
MAT
Phenylketonuria
MSUD
Tyrosinemia 1
Tyrosinemia 2

27
Q

8 Fatty acid oxidation disorders

A

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

28
Q

deficiency or absence of enzymes needed in breaking down specific proteins

A

Organic Acidurias

29
Q

disorder of leucine metabolism

A

3MCCD

30
Q

defect of mitochondrial acetoacetyl CoA thiolase

A

beta ketothiolase deficiency

31
Q

deficiency of glutaryl-coa dehydrogenase

A

Glutaric acidemia type 1

32
Q

deficiency of isovaleryl coa dehydrogenase

A

isovaleric acidemia (IVA)

33
Q

defect in metholmalonyl coA mutase

A

Methylmalonic acidemia MMA

34
Q

caused by holocarboxylase synthetase enzyme

A

Multiple Carboxylase Deficiency MCD

35
Q

6 ORGANIC ACIDURIAS

A

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

36
Q

main pathway that the body uses to eliminate excess nitrogen

A

Urea cycle

37
Q

deficiency of arginosuccinate synthetase

A

Citrullinemia

38
Q

structural abnormalities and usually due to single amino acid substitution

A

Hemoglobinopathies

39
Q

decreased production in a or b globin chains

A

Thalassemias

40
Q

deletion of a globin gene

A

a thalassemia

41
Q

total absence of B chain production

A

b thalassemia

42
Q

occurs in patients with predominant hbS

A

sickle cell disease

43
Q

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

A

Galactosemia

44
Q

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

A

G6PD deficiency

45
Q

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

A

Cystic Fibrosis

46
Q

health facility that educates parents abouts NBS during prenatal period

A

Newborn Screening Facility

47
Q

facility equipped with NBS laboratory that complies with standards established

A

Newborn screening Center (NSC)

48
Q

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

A

Newborn Confirmatory Center (NBCC)

49
Q

central facility at NIH that defines testing and follow up protocols

A

newborn screening reference center (NSFC)

50
Q

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

A

Newborn Screening COntinuity Clinic

MT LAWS FINALS (6 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions