newborn screening Flashcards
is an inherited condition of the blood. Individuals
with G6PD deficiency usually show no signs or
symptoms of the condition until they are exposed
to certain medications, foods or infections.
Glucose-6-Phosphate Dehydrogenase
deficiency9 (G6PD deficiency)
•also known as branched-chain ketoaciduria, is an
aminoacidopathy due to an enzyme defect in the
catabolic pathway of the branched-chain amino acids
leucine, isoleucine, and valine.
MAPLE SYRUP URINE DISEASE (MSUD)
is an inherited disorder that increases the levels of a
substance called phenylalanine in the blood.
Phenylalanine is a building block of proteins (an
amino acid) that is obtained through the diet. It is
found in all proteins and in some artificial
sweeteners. I
PHENYLKETONURIA (commonly
known as PKU)
•Is an inherited defect of galactose
metabolism caused by an enzyme
deficiency that prevents proper metabolism
and utilization of galactose, or milk sugar.
The main dietary source of galactose is
lactose, the principle carbohydrate found in
all forms of milk
Galactosemia
is an inherited disorder that results in low
levels of cortisol and high levels of male
hormones, causing development of male
characteristics in females, and early puberty
in both boys and girls.
CONGENITAL ADRENAL HYPERPLASIA
CAH
Congenital hypothyroidism (CH)
is inadequate thyroid hormone production in
newborn infants. It can occur because of an
anatomic defect in the gland, an inborn error
of thyroid metabolism, or iodine deficiency
Congenital hypothyroidism (CH)
❑- will increase the screening panel of disorders from six (6) to twenty-eight (28).
EXPANDED NEWBORN SCREENING
PROGRAM
•is a procedure intended for early identification of
infants who are affected by certain genetic,
metabolic, or infectious conditions that may
lead to mental retardation or morbidity if left
untreated. T
NEWBORN SCREENING
