RA 9288 Newborn Screening Act of 2004

These flashcards cover key vocabulary and concepts related to the Newborn Screening Act of 2004 and associated metabolic disorders.

Newborn Screening

A process for early detection and management of certain metabolic disorders in newborns.

Congenital Hypothyroidism

A disorder where newborns are unable to produce enough thyroid hormone, potentially leading to mental retardation.

Phenylketonuria (PKU)

A metabolic disorder caused by the absence of the enzyme phenylalanine hydroxylase, leading to increased levels of phenylalanine.

Galactosemia

An inherited metabolic disorder caused by an enzyme deficiency, leading to accumulation of galactose.

G6PD Deficiency

A hereditary condition where patients lack glucose-6-phosphate dehydrogenase, leading to hemolysis under oxidative stress.

Maple Syrup Urine Disease (MSUD)

A metabolic disorder causing increased levels of branched-chain amino acids (leucine, isoleucine, valine) in blood and urine.

Heel Prick Method

A technique used in newborn screening where blood is taken from a baby’s heel for testing.

Congenital Adrenal Hyperplasia (CAH)

A genetic disorder affecting the adrenal glands, often due to a deficiency of the enzyme 21-hydroxylase.

Testing Result Process

Positive results are reported within 24 hours, while negative results are released after 7 working days.

Lifelong Management

Required ongoing care for congenital metabolic disorders identified through newborn screening.