News
Rare Disorders in Newborn Screening Test
PHENYLKETONURIA (PKU) and GALACTOSEMIA (Gal) are two (2) hereditary metabolic disorders included in the country’s newborn screening panel. Babies, if left untreated, succumb to complications. PKU and Gal are considered ‘rare’ or ‘orphan’ disorders.
Most babies with metabolic disorders look normal at birth. One will never know that the baby has the disorder until the onset of signs and symptoms and more often ill effects are already irreversible.
Newborn screening (NBS) is a simple procedure to find out if your baby has a congenital metabolic disorder that may lead to mental retardation and even death if left untreated.
Screening is ideally done on the 48th hour or at least 24 hours from birth. Some disorders are not detected if the test is done earlier than 24 hours.
| Disorder Screened | Effect if NOT SCREENED | Effect if SCREENED and treated |
|---|---|---|
| CH (Congenital Hypothyroidism) | Severe Mental Retardation | Normal |
| CAH (Congenital Adrenal Hyperplasia) | Death | Alive and normal |
| GAL (Galactosemia) | Death or Cataracts | Alive and normal |
| PKU (Phenylketonuria) | Severe Mental Retardation | Normal |
| G6PD Deficiency | Severe Anemia, Kernicterus | Normal |
For more info on newborn screening, visit www.newbornscreening.ph
