MTLBE

Question 1

Also known as the Newborn Screening Act of 2004

Answer 1

RA 9288

Question 2

a law promulgating a comprehensive policy and a national system for ensuring NBS

Answer 2

RA 9288

Question 3

RA 9288 was approved on _____________________

Answer 3

July 7, 2004

Question 4

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

Answer 4

Newborn Screening

Question 5

order directing the inclusion of maple syrup disease (MSUD) in the NBS Panel of Disorders, completing the six parameters of NBS

Answer 5

Department Memorandum No. 2012- 0154

Question 6

is an examination that increases the coverage of the NBS Panel from six to ___ types of congenital disorders that fall into various categories

Answer 6

Expanded Newborn Screening

Question 7

refers to a child from the time of complete delivery to 30 days old

Answer 7

NEWBORN

Question 8

NBS shall be performed after _________ of life but not later than ___________ from the complete delivery of the newborn

Answer 8

24 hours, three days

Question 9

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.

Answer 9

seven days

Question 10

is any congenital trait that can result in mental retardation, physical deformity, or death if left undetected and untreated

Answer 10

Heritable Condition

Question 11

are defects that involve errors in the production of endocrine hormones

Answer 11

Endocrine Hormones

Question 12

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

Answer 12

Congenital Hyperthyroidism

Question 13

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

Answer 13

Congenital Adrenal Hyperplasia (CAH)

Question 14

are defects that involve errors in amino acids metabolism

Answer 14

Amino Acid Disorders

Question 15

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

Answer 15

Homocystinuria

Question 16

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

Answer 16

Methionine Adenosine Transferase Deficiency

Question 17

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

Answer 17

Maple Syrup Urine Disease

Question 18

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

Answer 18

Phenylketonuria

Question 19

is also known as hepatorenal tyrosinemia, tyrosinemia type 1, tyrosinosis, or hereditary tyrosinemia. The deficient enzyme is fumarylacetoacetase

Answer 19

Tyrosinemia Type I

Question 20

is also known as oculocutaneous tyrosinemia or Richner-Hanhart syndrome. The deficient enzyme is tyrosine aminotransferase

Answer 20

Tyrosinemia Type II

Question 21

is a group of autosomal recessive disorders caused by the deficiency or absence of any of the enzymes needed for beta-oxidation

Answer 21

Fatty Acid Oxidation Disorders

Question 22

is a rare metabolic disorder characterized by the lack of CPT1.

Answer 22

Carnitine palmitoyltransferase I deficiency

Question 23

is the lack of Carnitine palmitoyltransferase II, which is responsible for the last step of the carnine -dependent transport system

Answer 23

Carnitine palmitoyltransferase II deficiency

Question 24

is also known as carnitine transporter deficiency, due to an abnormality in the transport mechanism that facilitates carnitine’s entry into certain cells.

Answer 24

Carnitine Uptake deficiency

Question 25

is a disorder of fatty acid, amino acid, and choline oxidation caused by defects in any one of two flavoproteins

Answer 25

Glutaric acidemia type II

Question 26

occurs when mutation in the HADHA gene are present in the newborn

Answer 26

Long-chain hydroxylacyl-COA dehydrogenase deficiency

Question 27

is the most common defect of fatty acid oxidation and is associated with sudden infant death syndrome

Answer 27

Medium chain hydroxylacyl-COA dehydrogenase deficiency

Question 28

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

Answer 28

Very long-chain hydroxylacyl-COA dehydrogenase deficiency

Question 29

occurs when markedly decreased activity of all three enzymatic components, LCHAD, long-chain 2,3 enoyl COA hydratase and LKAT exist

Answer 29

Tri-functional protein deficiency

Question 30

are a group of autosomal recessive disorders caused by the deficiency or absence of any of the enzymes needed to break down specific proteins

Answer 30

Organic Acidurias

Question 31

is a disorder of leucine metabolism that was first described by Eldjarn et al. in 1970.

Answer 31

3 Methylcrotnyl CoA Carboxylase Deficiency