9288
Cards (21)
- Follow-up : monitoring of a newborn with a confirmed heritablecondition
- Recall : procedure for locating a newborn with a possibleheritable condition for confirmatory testing
- Newborn Screening : collection of few drops of blood from a newborn using an appropriatecollection card
- Heritable conditions (6 are commonly tested)- any condition that can result to mental retardation, physicaldeformity, or death if left untreated and undetected (usuallyinherited from the genes of parents)
- Chairman: DOH Secretary
- Vice-Chair: Executive Director of the NIH
- Phenylketonuria - An amino acid disorder in whichphenylalanine cannot be convertedto tyrosine due to a deficiency orabsence of the enzymephenylalanine hydroxylase
- The most important and sometimes the only manifestation of PKUis mental retardation
- Maple Syrup Urine Disease - a defect or deficiency of thebranched chain ketoaciddehydrogenase complex inwhich elevated quantities ofleucine, isoleucine, valine, andtheir corresponding oxoacidsaccumulate in body fluids
- Congenital Adrenal Hyperplasia - a group of disorders resulting from enzymatic defects in thebiosvnthesis of steroids
- 90% of CAH is due to 21-hydroxylase deficiency
- Congenital Hypothyroidism - Thyroid hormone deficiency atbirth
- Galactosemia - an inborn error of carbohydratemetabolism characterized byelevated levels of galactose and itsmetabolites due to enzymedeficiencies
- • In classic galactosemia, the enzymethat is reduced or missing is called galactose-1-phosphate uridyltransferase (GALT) .
- Glucose-6-phosphate dehydrogenase(G6PD) Deficiency - Most common heritable disease in the Philippines
- G6PD Causes hemolytic anemia induced by various oxidativestresses
- The dreaded effect ofjaundice is kernicterus deposition of bilirubincauses permanent damagethe brain or death
- shall be performed after 24 hours but notmore than 3 days after delivery
- newborns in ICU: should be tested within 7 days
- TAT: 7-14 working days (ENBS) from thetime the NSC received the samples
- 2019: only 14 genetic counselors in the Philippines