RA 9288 disorders

Congenital Hypothyroidism or CH

Congenital Adrenal Hyperplasia or CAH

Phenylketonuria or PKU

Galactosemia or GAL

Maple Syrup Urine Disorder or MSUD

Glucose-6-Phosphate Dehydrogenase Deficiency or G6PD deficiency

The National Newborn Screening program includes screening for the following metabolic disorders with the corresponding prevalences as of 2021

January 3 2000 - AO No. 1-A series of 2000

How did RA 9288 start?

Congenital Hypothyroidism,

Congenital Adrenal Hyperplasia,

Galactosemia and Phenylketonuria

In AO No. 1-A series of 2000, What disorders are included here

January 3 2000 - AO No. 1-A series of 2000

It is the Policies for the Nationwide

Implementation of Newborn Screening

Project. It is still a policy not laws/guidelines that implementing rules and regulations, it is

merely a policy on how the newborn

screening can be implemented in our

country

Dec 9, 2003 - AO No. 121

It is the Strengthening Implementation of

the National Newborn Screening System

it supports the previous AO 1-A

Glucose-6-

phosphate dehydrogenase deficiency (G6PD)

What disorder was added in AO No. 121

April 7, 2004

The enactment date of the Newborn Screening Act of 2004

October 7, 2004

The issuance of the implementing rules and

regulations of Newborn Screening Act

May 15, 2012 - Department Memorandum No.

2012-0154

Issued by DOH

MSUD Maple Syrup Urine Disease

Department Memorandum No.

2012-0154 added what disorder?

Option 1: 6 panel newborn screening test

Option 2: expanded newborn screening test

Two option to choose in Newborn Screening:

AO No. 2014-0045

2 years after the completion of Option 1, the

DOH issued another which is the guidelines on the implementation of the ENBSP

Expanded Newborn Screening Program

ENBSP

28

newborn disorders falling on various

categories or types

ENBS/Option 2 detects a total of

AO No. 2018-0025

After the DOH legislated the ENBSP, the DOH promulgated the National Policy and Strategic Framework on Expanded Newborn Screening for the year 2017-2030 - Contains the plans, policies, frameworks on how to implement on Expanded Newborn Screening for the year 2017-2030

March 29, 2019 - AO No. 2014-0045A

Directing that option 1 (6 panel test) will be

offered only until April 30, 2019

Glucose 6-Phosphate Dehydrogenase (G6PD)

Deficiency

Most common disorder that is being

detected in newborn screening

Endocrine disorders

Amino acid disorders

Fatty acid disorders

Organic acid disorders

Urea cycle defects

Hemoglobinopathies

• Others

Categories of Option 2: DISORDERS IN ENBS

CONGENITAL ADRENAL HYPERPLASIA (CAH)

Increase pigmentation

- Ambiguous genitalia in female infants:

-Poor suck, weak cry

- Vomiting, excessive urination, dehydration

- Irritability and seizures

- Failure to thrive

- Hypotension, shock

- Coma

LATE MANIFESTATIONS:

- Mental retardation

- Growth retardation

- Delayed skeletal maturation

- Delayed dental development and tooth

eruption

- Delayed puberty

GALACTOSEMIA

Develop a few days to two weeks AFTER

INITIATION OF MILK FEEDINGS

- Poor suck

- Vomiting, occasionally diarrhea

- Jaundice

- Lethargy, weakness, coma

- Septicemia (E. coli)

LATER: Excess galactose deposits in tissues

- Liver

▪ Hepatomegaly

▪ Edema

▪ Ascites

▪ Cirrhosis of the liver

- Lens

▪ Cataracts

- Brain

▪ Mental retardation

-Kidney

-Growth failure

PHENYLKETONURIA

- Vomiting

- Hyperactivity

- Seizures and hypertonia

- Musty or mousy urine color

- Light hair and skin color

- Seborrheic or eczematoid rash

- Mental retardation

GLUCOSE - 6- PHOSPHATE DEHYDROGENASE

(G6PD) DEFICIENCY

- ACUTE HEMOLYTIC CRISIS

▪ Anemia

▪ Decrease oxygen delivery

▪ Enlarged spleen

- INCREASED BILIRUBIN

▪ Jaundice, tea colored urine

▪ Accumulation in tissues

o Brain (kernicterus)

o Gall bladder (gallstones)