CHN 2 Flashcards
● Ensure that every baby born in the Philippines is
offered the opportunity to undergo NBS to eNBS
to be spared from heritable conditions
RA 9288 - NEWBORN SCREENING ACT OF 2004
● An essential public health strategy that enables
the early detection (not diagnose) and
management of several metabolic disorders
NEWBORN SCREENING PROGRAM
● Results from lack of thyroid hormone which are
essential to growth of the brain and body
● Physical growth is stunted and may then suffer
mental retardation
CONGENITAL HYPOTHYROIDISM
● causes severe salt loss, dehydration and
abnormally high levels of male sex hormones in
both boys and girls
CONGENITAL ADRENAL HYPERPLASIA
● Accumulation of galactose in blood
● unable to process a certain part of milk sugar
called galactose
● build up of too much galactose in the body can
cause liver and brain damage
GALACTOSEMIA
the most common and most severe form of the
condition.
● If infants with classic galactosemia are not treated
promptly with a low-galactose diet, lifethreatening complications appear within a few
days after birth
CLASSIC GALACTOSEMIA
● Deficiency of enzyme Galactokinase
● Autosomal recessive
● Less severe or benign compared to classic type
● Early onset of cataract in the first few months of
life.
NON-CLASSICAL GALACTOSEMIA
● also called galactose epimerase deficiency) cause
different patterns of signs and symptoms.
● The signs and symptoms of galactosemia type III
vary from mild to severe and can include
cataracts, delayed growth and development,
intellectual disability, liver disease, and kidney
problems.
TYPE III GALACTOSEMIA
● rare condition in which the NB cannot properly
use one of the building blocks of protein, called
phenylalanine
● Presence of ketones in the urine
PHENYLKETONURIA (PKU)
● an inherited metabolic disorder in which the body
is unable to process certain amino acids
● This condition cannot break down the amino
acids leucine, isoleucine, and valine.
MAPLE SYRUP URINE DISEASE
MAPLE SYRUP URINE DISEASE
CYSTIC FIBROSIS
● a genetic defect that results in abnormal structure
of one of the globin chains of the hemoglobin
molecule.
● Common hemoglobinopathies include sickle-cell
disease
HEMOGLOBINOPATHIES
● a genetic disorder that results from an inability of
the body to produce or utilize one enzyme
(Acyl-CoA) that is required to oxidize fatty acids
FATTY ACID OXIDATION DISORDER
● inherited in an autosomal recessive manner and
affects both males and females. ASAL deficiency
is one of a small number of conditions called
“urea cycle disorders” (UCD)
AMINO ACID DISORDERS
An act establishing a universal
newborn hearing screening
program for the prevention, early
diagnosis & intervention of hearing
loss
RA 9709
