Screening for Inborn Errors of Metabolism

Question 1

Pioneer of NBS in 1961
He made an assay for the presymptomatic identification of patients with PKU using dried blood absorbed into a special filter paper

Answer 1

Dr. Robert Guthrie

Question 2

Newborn Screening was introduced in the Philippines in 1996 with the screening of 5 disorders, such as:

Answer 2

PKU (Phenylketonuria)
CAH (Congential adrenal hyperplasia)
CH (Congenital hypothyroidism)
Gal (Galactosemia)

HCY (Homocystinuria) - dropped in 1998 and replaced wiht G6PD def

Question 3

This Act will require that every baby born in the Philippines be offered an opportunity for newborn screening.

Answer 3

RA 9288 “The Newborn Screening Act of 2004”

Question 4

What IEM was added as the 6th disease screened in the NBS?

Answer 4

Maple syrup urine disease

Question 5

Number of disorders screened in the expanded NBS?

Answer 5

28 disorders (6 + 22 new disorders)