(F) Newborn Screening 2 Flashcards by ASHLEY JARED DEFENSOR | Brainscape

Q

severe deficiency of PAH (Phenul Alanine Hydroxylase)

A

PHENYLKETONURIA (PKU)

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Q

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

A

Dihydropteridine reductase (DHPR).

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Q

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

A

Phenylalanine hydroxylase

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Q

PKU

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

A

Dihydropteridine reductase (DHPR)

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Q

PKU

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

A

(F) dihydrobiopterin

True dapat

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

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Q

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

A

E

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Q

PKU

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

A

Minor shunt pathway

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Q

PKU

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

A

F (6 months)

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Q

PKU

The skin is prone to develop?

A

eczema

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Q

PKU

Treatment

A

Restriction of phenylalanine intake; gene therapy

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Q

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

A

G6PD Deficiency

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Q

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

A

E

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Q

G6PD

Trigger Foods?

A

Most frequent fava beans

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Q

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

A

mothballs

can trigger hemolysis in those with G6PD deficiency

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Q

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

A

NADPH

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Q

G6PD

NADPH converts Glucose-
6-phosphate to?

A

6-Phosphogluconate

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Q

G6PD

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

A

NADPH

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Q

G6PD

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

A

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

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Q

MSUD (AD, AR, X)

Inheritance pattern

A

AR

Q

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

A

a-ketoacid dehydrogenase complex

Q

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.

A

leucine, isoleucine and valine

Q

Test

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

A

Expanded newborn screening

Q

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

A

E

Q

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

A

C

Q

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

A

B

Q

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

A

B

Q

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

A

A

Q

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

A

B

Q

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

A

A

Q

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

A

D

Q

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

A

D

Q

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

A

E

Q

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

A

E

Q

o Argininosuccinic Aciduria
o Citrullinemia

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

A

C

Q

NBS Process

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

A

24 hours after birth

Q

NBS Process

The blood sample is placed on a special filter paper to dry.

This process is called?

A

Blotting

Q

NBS Process

Results are available by how many days?

A

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

Q

NBS results

Negative screen means?

A

newborn is normal

Q

NBS results

Positive results mean?

A

OH NO

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

Q

NEWBORN SCREENING PROCESS LABORATORY METHODS

Can detect 25-30 different biochemical genetic diseases.

A

Tandem Mass Spectrometry

Q

NEWBORN SCREENING PROCESS LABORATORY METHODS

Amino acids and acylcarnithines

A

TMS

Q

NEWBORN SCREENING PROCESS LABORATORY METHODS

For Thyroid hormones in Congenital
hypothyroidism

A

Immunoassays

Q

NEWBORN SCREENING PROCESS LABORATORY METHODS

A congenital adrenal hyperplasia, 17-
hydroprogesterone (CAH)

A

Immunoassays

Q

NEWBORN SCREENING PROCESS LABORATORY METHODS

For Hemoglobinopathies (In Expanded NBS)

A

Isoelectric Focusing

Q

NEWBORN SCREENING PROCESS LABORATORY METHODS

For Cystic fibrosis and severe combined immunodeficiency if it will be included in the future.

A

Molecular Techniques

Q

ROLES OF HEALTH PRACTITIONERS

TOF. Physicians, nurses, medical technologists,
phlebotomists, and trained midwives may get the
blood sample.

A

T

Q

NEWBORN SCREENING PROCESS LABORATORY METHODS

A