Newborn Screening

Question 1

RA 9288

Answer 1

Newborn Screening
done at 48 hrs
28 diseases

Question 2

Most common cause of CONGENITAL HYPOTHYROIDISM

Answer 2

thyroid dysgenesis

Question 3

Congenital Hypothyroidism

Answer 3

normal birth weight and length
delayed physical, mental and sexual development
PROLONGED PHYSIOLOGIC JAUNDICE

Question 4

AR disorder of cortisol biosynthesis
deficiency in cortisol –> increased ACTH (corticotropin) –> adrenocortical hyperplasia and overproduction of intermediate metabolites

Answer 4

Congenital Adrenal Hyperplasia

21 hydroxylase deficiency

Question 5

LAB FINDINGS IN CAH

Answer 5

hyponatremia
hypoglycemia
hyperkalemia

Question 6

3 enzymes deficiency in GALACTOSEMIA

unable to convert galactose –> galactose 1-phosphate and uridine diphosphate galactose

Answer 6

Galactose 1 phosphate uridyltransferase deficiency (GALT) - classic form

Galactokinase deficiency - cataracts

Galactose 4 epimerase deficiency (GALE)

Question 7

Symptoms of Galactosemia

Answer 7

feeding intolerance
vomiting
jaundice
convulsions
lethargy
hypotonia
mental retardation

Question 8

Long Term Sequelae of Galactosemia

Answer 8

ovarian failure
developmental delay
learning disability

Question 9

Episodic or chronic hemolytic anemia

Answer 9

G6PD Deficiency

Question 10

Enzyme that is deficient in PHENYLKETONURIA

hyperphenylalaninemia
excess phenylalanine - transaminated to phenylpyruvic acid or decarboxylated to phenylethylamine –> DISRUPTS normal metabolism and cause BRAIN DAMAGE

UNPLEASANT MUSTY ODOR

Answer 10

Phenylalanine hydroxylase

INFANT
severe vomiting
hypertonic
hyperactive DTRs
seizures

OLDER
hyperactive w/ purposeless movements
rhythmic rocking
athetosis

Question 11

MC manifestation of phenylketonuria (w/o treatment)

Answer 11

developmental delay

Question 12

Genetic metabolic disorder d.t. DEFECTIVE activity of the enzyme BRANCHED CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX

Answer 12

MAPLE SYRUP URINE DISEASE (MSUD)