(F) Newborn Screening 2 Flashcards
severe deficiency of PAH (Phenul Alanine Hydroxylase)
PHENYLKETONURIA (PKU)
In minority of cases, the one enzyme that is deficient is?
Dihydropteridine reductase (DHPR).
In majority of cases, the one that is deficient is?
Phenylalanine hydroxylase
PKU
The Dihydrobiopterin is recycled and eventually reconverted to Tetrahydrobiopterin in a reaction that is catalyzed by
Dihydropteridine reductase (DHPR)
PKU
TOF. 2% due to abnormalities in synthesis or recycling of tetrahydrobipterin.
(F) dihydrobiopterin
True dapat
pero nirerecycle pa rin yung Dihydrobiopterin is recycled para ireconvert siya into tetra
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
E
PKU
The formation of acids present in urine and sweat is a pathway called?
Minor shunt pathway
PKU
TOF. Patients appear at Normal at birth → Mental
Retardation at 10 years of age
F (6 months)
PKU
The skin is prone to develop?
eczema
PKU
Treatment
Restriction of phenylalanine intake; gene therapy
Most common condition among Newborn Screening (NBS) panel of disorders.
G6PD Deficiency
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
E
G6PD
Trigger Foods?
Most frequent fava beans
While waiting for the test result, parents should not expose their child to?
mothballs
can trigger hemolysis in those with G6PD deficiency
Glucose-6-PO4 dehydrogenase (G6PD) reduces Nicotinamide adenine dinucleotide phosphate (NADP) to?
NADPH
G6PD
NADPH converts Glucose-
6-phosphate to?
6-Phosphogluconate
G6PD
This provides reducing equivalence needed for the conversion of Oxidized glutathione (GSSG) to Reduced glutathione (GSH).
NADPH
G6PD
NADPH protexts against injury by catalyzing the breakdown of compounds, such as?
Hydrogen peroxide (H2O2, Agua Oxinada) to water (H2O)
MSUD (AD, AR, X)
Inheritance pattern
AR
The MAPLE SYRUP URINE DISEASE (MSUD) os a deficiency of?
a-ketoacid dehydrogenase complex
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.
leucine, isoleucine and valine
Test
the newborns are tested for many potentially fatal and harmful metabolic abnormalities which are not manifested at birth using a single test
Expanded newborn screening
Newborn screening can be done using:
A. Urine
B. Sputum
C. Blood
D. A & B
E. A & C
E
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
C
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
B
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
B
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
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
B
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
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
D
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
D
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
E
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
E
o Argininosuccinic Aciduria
o Citrullinemia
A. ORGANIC ACIDS
B. AMINO ACID DISORDERS
C. UREA CYCLE DEFECTS
D. FATTY ACIDS
E.THALASSEMIAS AND HEMOGLOBINOPATHIES
C
NBS Process
The process involves taking a few drops of blood
from baby’s heel are collected when?
24 hours after birth
NBS Process
The blood sample is placed on a special filter paper to dry.
This process is called?
Blotting
NBS Process
Results are available by how many days?
7-14 working days from
the time samples are received at NBS center
NBS results
Negative screen means?
newborn is normal
NBS results
Positive results mean?
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
NEWBORN SCREENING PROCESS LABORATORY METHODS
Can detect 25-30 different biochemical genetic diseases.
Tandem Mass Spectrometry
NEWBORN SCREENING PROCESS LABORATORY METHODS
Amino acids and acylcarnithines
TMS
NEWBORN SCREENING PROCESS LABORATORY METHODS
For Thyroid hormones in Congenital
hypothyroidism
Immunoassays
NEWBORN SCREENING PROCESS LABORATORY METHODS
A congenital adrenal hyperplasia, 17-
hydroprogesterone (CAH)
Immunoassays
NEWBORN SCREENING PROCESS LABORATORY METHODS
For Hemoglobinopathies (In Expanded NBS)
Isoelectric Focusing
NEWBORN SCREENING PROCESS LABORATORY METHODS
For Cystic fibrosis and severe combined immunodeficiency if it will be included in the future.
Molecular Techniques
ROLES OF HEALTH PRACTITIONERS
TOF. Physicians, nurses, medical technologists,
phlebotomists, and trained midwives may get the
blood sample.
T
NEWBORN SCREENING PROCESS LABORATORY METHODS
