MTLBE Flashcards
Also known as the Newborn Screening Act of 2004
RA 9288
a law promulgating a comprehensive policy and a national system for ensuring NBS
RA 9288
RA 9288 was approved on _____________________
July 7, 2004
is the process of collecting a few drops of blood from the newborn onto an appropriate collection card and performing biochemical testing to determine if he newborn has a heritable condition
Newborn Screening
order directing the inclusion of maple syrup disease (MSUD) in the NBS Panel of Disorders, completing the six parameters of NBS
Department Memorandum No. 2012- 0154
is an examination that increases the coverage of the NBS Panel from six to ___ types of congenital disorders that fall into various categories
Expanded Newborn Screening, 28
refers to a child from the time of complete delivery to 30 days old
NEWBORN
NBS shall be performed after _________ of life but not later than ___________ from the complete delivery of the newborn
24 hours, three days
As an exemption, a newborn that must be placed in intensive care in order to ensure survival may be exempted from the three-day requirement but must be tested by ______________ of age.
seven days
is any congenital trait that can result in mental retardation, physical deformity, or death if left undetected and untreated
Heritable Condition
are defects that involve errors in the production of endocrine hormones
Endocrine Hormones
is a disorder resulting from thyroid dysgenesis (TD) that presents as an absent, ectopic, or hypoplastic thyroid, which affects thyroid hormone production and commonly results in mental retardation
Congenital Hyperthyroidism
is a group of disorders resulting from enzymatic defects in the biosynthesis of steroids such as 21-hydroxylase deficiency. Others are due to cholesterol desmolase 11B- hydroxylase deficiency, 12B-hydroxylase deficiency, and 3B- hydroxysteroid dehydrogenase
Congenital Adrenal Hyperplasia (CAH)
are defects that involve errors in amino acids metabolism
Amino Acid Disorders
is caused by cystathionine B-synthase deficiency, an inborn error of the trans sulfation pathway which causes an increase in levels of homocysteine and methionine in the blood
Homocystinuria
is the abnormal elevation of plasma methionine that persists beyond infancy and is not caused by homocystinuria due to cystathionine B- Synthase deficiency, tyrosinemia type I, or severe liver disease
Methionine Adenosine Transferase Deficiency
is due to a defect or deficiency of the branched-chain ketoacid dehydrogenase complex, in which elevated quantities of leucine, isoleucine, valine, and their corresponding oxoacids accumulate in the body fluids
Maple Syrup Urine Disease
is a disorder of aromatic amino acid metabolism in which phenylalanine cannot be converted to tyrosine due to a deficiency or absence of the enzyme phenylalanine hydroxylase
Phenylketonuria
is also known as hepatorenal tyrosinemia, tyrosinemia type 1, tyrosinosis, or hereditary tyrosinemia. The deficient enzyme is fumarylacetoacetase
Tyrosinemia Type I
is also known as oculocutaneous tyrosinemia or Richner-Hanhart syndrome. The deficient enzyme is tyrosine aminotransferase
Tyrosinemia Type II
is a group of autosomal recessive disorders caused by the deficiency or absence of any of the enzymes needed for beta-oxidation
Fatty Acid Oxidation Disorders
is a rare metabolic disorder characterized by the lack of CPT1.
Carnitine palmitoyltransferase I deficiency
is the lack of Carnitine palmitoyltransferase II, which is responsible for the last step of the carnine -dependent transport system
Carnitine palmitoyltransferase II deficiency
is also known as carnitine transporter deficiency, due to an abnormality in the transport mechanism that facilitates carnitine’s entry into certain cells.
Carnitine Uptake deficiency
is a disorder of fatty acid, amino acid, and choline oxidation caused by defects in any one of two flavoproteins
Glutaric acidemia type II
occurs when mutation in the HADHA gene are present in the newborn
Long-chain hydroxylacyl-COA dehydrogenase deficiency
is the most common defect of fatty acid oxidation and is associated with sudden infant death syndrome
Medium chain hydroxylacyl-COA dehydrogenase deficiency
generally more severe condition than MCAD or SCAD deficiency and multiple tissues are affected. The disease prevent certain fats from being converted in to energy
Very long-chain hydroxylacyl-COA dehydrogenase deficiency
occurs when markedly decreased activity of all three enzymatic components, LCHAD, long-chain 2,3 enoyl COA hydratase and LKAT exist
Tri-functional protein deficiency
are a group of autosomal recessive disorders caused by the deficiency or absence of any of the enzymes needed to break down specific proteins
Organic Acidurias
is a disorder of leucine metabolism that was first described by Eldjarn et al. in 1970.
3 Methylcrotnyl CoA Carboxylase Deficiency
