Group 1:

DIZON, Khaezel
GUBAT, Almerah
JEERH, Sukhjit
MULDONG, Myka
PINEDA, Kristen

NEWBORN SCREENING

- Newborn screening a simple procedure to find out if a baby has a congenital metabolic
disorder that may lead to mental retardation or even death if left untreated.
- Newborn screening (NBS) is a public health program aimed at the early identification of
infants who are affected by certain genetic/metabolic/infectious conditions.
- NBS is usually done on the 48th to 72nd hour of life (first 2 to 3 days of life).
- May also be done 24 hours from birth since some disorders are not detected if the test
is done earlier than 24 hours from birth.

HISTORY:

- NBS in the Philippines started in June 1996 and was integrated into the public health
delivery system with the enactment of Republic Act 9288 or also known as the Newborn
Screening Act of 2004.

IMPORTANCE OF NEWBORN SCREENING

- Most babies with metabolic disorder look normal at birth.

- One will never know that the baby has the disorder until the signs and symptoms are
manifested. By this time, irreversible consequences are already present.

How is newborn screening done?

- Using the heel prick method, a few drops of blood are taken from the baby’s heel.
- Blotted on a special absorbent filter card.
- Blood is dried for 4 hours and sent to the Newborn Screening Center.

When are newborn screening results available?

- Seven (7) working days from the time the newborn screening samples are received
parents should claim the results from their physician, nurse, midwife or health worker.
- Any laboratory result indicating an increased risk of a heritable disorder (i.e. positive
screen) shall be immediately released, within twenty-four (24) hours, so that
confirmatory testing can be immediately done.
 - A positive screen means that the newborn must be referred at once to a specialist for
confirmatory testing and further management.

EXPANDED NEWBORN SCREENING

- The expanded newborn screening program will increase the screening panel of
disorders from six (6) to twenty-eight (28). This will provide opportunities to significantly
improve the quality of life of affected newborns through facilitating early diagnosis and
early treatment.

ENDOCRINE DISORDERS:

● Congenital Hypothyroidism is a partial or complete loss of function of the thyroid gland

(hypothyroidism) that affects infants from birth

● Congenital Adrenal Hyperplasia is a group of inherited genetic disorders that affect the
adrenal glands. A person with CAH lacks one of the enzymes the adrenal glands use to
produce hormones that help regulate metabolism, the immune system, blood pressure
and other essential functions.

AMINO ACID DISORDERS:

● Homocystinuria is a condition in which the body is unable to break down certain

proteins. HCY is considered an amino acid condition because individuals with
homocystinuria cannot process certain amino acids

● Hypermethioninemia/Methionine Adenosine is a condition that occurs when there is a

high amount of methionine in the body. It is considered an amino acid condition
because people with MET are unable to break down an amino acid, a building block of
proteins, known as methionine.

● Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited disorder that

impairs the body's ability to break down ketones, which are molecules produced in the
liver during the breakdown of fats.

● Phenylketonuria (PKU) is a condition in which the body cannot break down one of the
amino acids found in proteins. PKU is considered an amino acid condition because
people with PKU cannot break down the amino acid called phenylalanine.
 ● Maple Syrup Urine Disease is an inherited disorder in which the body is unable to
process certain protein building blocks (amino acids) properly. named for the sweet
odor of the urine of untreated babies.

● Tyrosinemia Type 1 & 2

○ Tyrosinemia Type 1 is a genetic disorder characterized by elevated blood levels
of the amino acid tyrosine, a building block of most proteins. This condition is
caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the
enzymes required for the multi-step process that breaks down tyrosine.

○ Tyrosinemia Type 2 is a genetic disorder in which individuals have elevated

blood levels of the amino acid tyrosine, a building block of most proteins. This
condition can affect the eyes, skin, and intellectual development.

FATTY ACID DISORDERS:

● Carnitine Palmitoyltransferase I & II Deficiency is a condition that prevents the body

from using certain fats for energy, particularly during periods without food (fasting).

● Carnitine Uptake Deficiency (CUD) is an inherited condition in which the body cannot
bring enough carnitine, a substance that helps the body make energy from fats, into the
cells.

● Glutaric Acidemia Type II is an inherited disorder that interferes with the body's ability
to break down proteins and fats to produce energy.

● Short, Medium, Long, and Very Long Chain-Acyl-CoA Dehydrogenase Deficiency is a

rare genetic disorder of fatty acid metabolism that is transmitted as an autosomal
recessive trait.

ORGANIC ACID DISORDERS:

● 3-Methylcrotonyl CoA Carboxylase Deficiency is an inherited disorder in which the

body is unable to process certain proteins properly. People with this disorder have a
shortage of an enzyme that helps break down proteins containing a particular building
block (amino acid) called leucine.

● Glutaric Acidemia Type I is an inherited disorder in which the body is unable to process
certain proteins properly. People with this disorder have inadequate levels of an enzyme
 that helps break down the amino acids, lysine, hydroxylysine, and tryptophan, which are
building blocks of protein.

● Isovaleric Acidemia is a rare disorder in which the body is unable to process certain
proteins properly. It is classified as an organic acid disorder, which is a condition that
leads to an abnormal buildup of particular acids known as organic acids.

● Methylmalonic Acidemia is a disorder in which the body cannot break down certain
proteins and fats. The result is a buildup of a substance called methylmalonic acid in the
blood.

● Multiple Carboxylase Deficiency is characterized by deficient activities of three biotin-

dependent enzymes, propionyl coenzyme A carboxylase, pyruvate carboxylase, and β-
methylcrotonyl coenzyme A carboxylase.

● Propionic Acidemia is an inherited disorder in which the body is unable to process

certain parts of proteins and lipids (fats) properly. In most cases, the features
of propionic acidemia become apparent within a few days after birth.

Cystic Fibrosis

● Is a progressive, genetic disease that causes persistent lung infections and limits the
ability to breathe over time. A defective gene causes a thick, sticky buildup of mucus in
the lungs, pancreas, and other organs. In the lungs, the mucus clogs the airways and traps
bacteria leading to infections, extensive lung damage, and eventually, respiratory failure.
In the pancreas, the mucus prevents the release of digestive enzymes that allow the body
to break down food and absorb vital nutrients.
Hemoglobinopathies

● Are inherited conditions that affect the number or shape of the red blood cells in the
body. These conditions can be very different from one another. Some
hemoglobinopathies can cause life-threatening symptoms, while others do not cause
medical problems or even signs of the condition. Mild hemoglobinopathies may require
no medical treatment. However, when severe cases are left untreated, they can cause a
shortage of red blood cells (anemia), organ damage or even death. Fortunately, when
severe hemoglobinopathies are identified and treated early in life, affected children often
can lead healthy lives.

Biotinidase deficiency

● Usually presents in infancy with a perioral dermatitis that resembles acrodermatitis

 enteropathica, patchy alopecia, and neurologic features such as ataxia, neurosensory
defects, developmental delay, and convulsions, though later presentation with
predominantly neurologic symptoms is possible.

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)

● Is a genetic disorder that occurs almost exclusively in males. This condition mainly affects
red blood cells, which carry oxygen from the lungs to tissues throughout the body. In
affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase
causes red blood cells to break down prematurely. Glucose-6-phosphate dehydrogenase
deficiency is also a significant cause of mild to severe jaundice in newborns.

Galactosemia

● Is a disorder that affects how the body processes a simple sugar called galactose. A small
amount of galactose is present in many foods. It is primarily part of a larger sugar called
lactose, which is found in all dairy products and many baby formulas. Affected infants
typically develop feeding difficulties, a lack of energy (lethargy), a failure to gain weight
and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes
(jaundice), liver damage, and abnormal bleeding.

References
● http://ihg.upm.edu.ph/node/127

● https://www.jica.go.jp/project/philippines/0600894/04/pdf/ppt_13.pdf

● https://www.babysfirsttest.org/newborn-screening/conditions/