RA 9288 Flashcards
law promulgating a comprehensive policy and national system ensuring NBS
RA 9288
process of collecting a few drops from newborn
Newborn Screening
examination that increases the coverage of NBS panel from 6-28 types of congenital disorders
Expanded Newborn Screening (ENBS)
NBS shall be performed ____
after 24 hrs but not later than 3 days
any congenital trait that can result in mental retardation, physical deformity, or death if left undetected
heritable condition
Specimen of choice
whole blood
defects that involve errors in production of endocrine hormones
Endocrine Disorders
2 Endocrine Disorders
Congenital hypothyroidism
Congenital Adrenal Hyperplasia
disorder resulting from Thyroid Dysgenesis that affects thyroid production
Congenital hypothyroidism
defects that involve errors in amino acid metabolism
Amino Acid Disorders
disorders resulting from enzymatic defects in biosynthesis of steroid
Congenital Adrenal Hyperplasia
cystathionine B-synthase deficiency
Homocystinuria (Hcy)
abnormal elevation of plasma methionine
MAT deficiency
defect or deficiency of ketoacid dehydrogenase complex
Maple Syrup Urine Disease (MSUD)
phenylalanine cant be converted to tyrosine, phenylalanine hydroxylase deficiency
Phenylketonuria
fumarylacetoacetase deficiency
Tyrosinemia type 1
tyrosine aminotransferase deficiency
Tyrosinemia type 2
deficiency or absence of enzymes needed for beta oxidation
fatty acid oxidation disorders
lack of CPT1
CPT1 deficiency
lack of CPT2
CPT2 deficiency
carnitine transporter deficiency
Carnitine Uptake Deficiency (CUD)
defects in flavoproteins
Glutaric Acidemia Type 2 (GA2)
mutations in HADHA gene
LCHADD
most common defect and cause SIDS
MCADD
more severe condition
VLCAD
decreased activity of all three enzymatic components
Tri-functional protein deficiency
6 Amino acid disorders
Homocystinuria
MAT
Phenylketonuria
MSUD
Tyrosinemia 1
Tyrosinemia 2
8 Fatty acid oxidation disorders
CPT1D
CPT2D
CUD
GA2
LCHADD
MCADD
VLCAD
Tri-functional protein deficiency
deficiency or absence of enzymes needed in breaking down specific proteins
Organic Acidurias
disorder of leucine metabolism
3MCCD
defect of mitochondrial acetoacetyl CoA thiolase
beta ketothiolase deficiency
deficiency of glutaryl-coa dehydrogenase
Glutaric acidemia type 1
deficiency of isovaleryl coa dehydrogenase
isovaleric acidemia (IVA)
defect in metholmalonyl coA mutase
Methylmalonic acidemia MMA
caused by holocarboxylase synthetase enzyme
Multiple Carboxylase Deficiency MCD
6 ORGANIC ACIDURIAS
3MCCD
Beta ketothiolase deficiency
Glutaric Acidemia type 1
Isovaleric Acidemia (IVA)
Methylmalonic acidemia (MMA)
Multiple Carboxylase Deficiency (MCD)
main pathway that the body uses to eliminate excess nitrogen
Urea cycle
deficiency of arginosuccinate synthetase
Citrullinemia
structural abnormalities and usually due to single amino acid substitution
Hemoglobinopathies
decreased production in a or b globin chains
Thalassemias
deletion of a globin gene
a thalassemia
total absence of B chain production
b thalassemia
occurs in patients with predominant hbS
sickle cell disease
rare metabolic genetic disorder that is inherited in autosomal recessive manner. Inborn error of carbohydrate metabolism, elevated galactose
Galactosemia
genetic abnormality resulting in inadequate or decreased production of G6PD - leading to hemolytic anemia
G6PD deficiency
progressive genetic disease that cause persistent lung infections and limits ability to breathe
Cystic Fibrosis
health facility that educates parents abouts NBS during prenatal period
Newborn Screening Facility
facility equipped with NBS laboratory that complies with standards established
Newborn screening Center (NSC)
facility identified by DOH, performs confirmatory testing to ensure accuracy of screening results
Newborn Confirmatory Center (NBCC)
central facility at NIH that defines testing and follow up protocols
newborn screening reference center (NSFC)
refers to ambulatory clinic based in tertiary hospital and identified by DOH
Newborn Screening COntinuity Clinic
