Newborn Screening

Question 1

What is the role of national newborn screening program

Answer 1

• For inborn error of metabolism

- endocrine disorder

Question 2

How to decide which disease to be screened

Answer 2

• important health problem
• available test
• available diagnostic\treatment
• benifits > risk

Question 3

,what are the new diseases included in newborn screening program

Answer 3

• hearing test

- cyanotic heart disease

Question 4

How is the screening done for newborn

Answer 4

• Guthrie card by heel prick

Question 5

What is the duration of guthrie card heel prick

Answer 5

24-72 hours

Question 6

What is the test used in the guthrie card?

Answer 6

Tandom mass spectoscopy

Question 7

What causes increased incidence of inborn error of metabolism (1:1043)

Answer 7

Consequity and first cousin marrige

Question 8

What is the most prevalent disabling condition worldwide?

Answer 8

Hearing impairment

Question 9

What are the risk factors for hearing loss at birth

Answer 9

• family hx
• infections and meningitis
• ototoxic medics
• LBW <1500
• craniofacial abn and syndrome
• hyperbilli requiring exchange transfusion
• asphyxia And mechanical venilation

Question 10

How to preform the newborn hearing screen?

Answer 10

Transient otoacoustic emission

Question 11

How to preform the CCHD screen

Answer 11

Pulse oximetery

Question 12

What is maple syrup urine disease?

Answer 12

The body can’t break down branched amino acids > buildup of valine, lucine and isolucine

Question 13

What are the byproducts of leucine, isoleucine and valine

Answer 13

• leucine: Acetylchoa
• Iso: Acetyle + Succinyl
• Valine: Succinyle

Question 14

What happens in maple syrup urine disease?

• at birth

Answer 14

Asymptomatic

Question 15

What happens in maple syrup urine disease?

• first day

Answer 15

Elevated branched amino acids

Leucine, isoleucine, valine

Question 16

What happens in maple syrup urine disease?

• 2-3 days

Answer 16

Non-specific signs of metabolic intoxication

Irritability, anorexia, hypersomonlence

Question 17

What happens in maple syrup urine disease?

• 4 to 6 days

Answer 17

• Worsening encephalopathy
  (Lethargy, apnea, fencing\cycline)
• odor of maple syrup in urine

Question 18

What happens in maple syrup urine disease?

• seven to ten days

Answer 18

Severe intoxication (cerebral edema, coma and respiratory failure)

Question 19

How to diagnose maple serup urine disease

Answer 19

• TMS: elevated leucine and alloisoleucine
• basic: metabolic acidosis and ketonuria
• genetic: homozygous mutation of MSUD gene

Question 20

How to confirm MSUD?

Answer 20

Homozygous mutation in MSUD genes

Question 21

How to treat MSUD?

Answer 21

• leucine restriction in diet
• enteral thiamine trial
• liver transplant

Question 22

What is the mode of inhertence in MSUD

Answer 22

Autosomal receissive

Question 23

Does liver transplant reverse the psychomotor diability and mental illness in newborn with MSUD?

Answer 23

No

Question 24

What is the enzymatic abnormality in galactosemia?

Answer 24

GALT enzyme deficiency

Question 25

What is the final outcome of galactosemia?

Answer 25

Cataract and pseudotumor cecrebri

Question 26

How does GALT def cause the osmotic effects?

Answer 26

Galactose is converted into galactitol

Question 27

What happens if you don’t treat galactosemia

Answer 27

``` 1- feeding problem 2- failure to thrive 3- hepatocellular damage 4- bleeding 5- E coli sepsis ```

Question 28

What is the common organism to cause sepsis in galactosemia patient

Answer 28

E-coli

Question 29

How to diagnose galactosemia?

Answer 29

1- high erythrocyte (G1phosphate) 2- low erythrocyte (G1phosphate uridyltranserase GALT enzyme) 3- genetic GALT mutaiton

Question 30

What is the enzyme deficiant in PKU?

Answer 30

Phenylanaline hydroxylase

Question 31

What are the clinical mainfestations of PKU

Answer 31

``` 1- epilepsy 2- ID 3- musty body odor 4- eczema 5- decreased skin\hair pigmentation ```

Question 32

What is the cutoff point for phenylanaline concentration to diagnise PKU?

Answer 32

>120

Question 33

What is the mutation in pPKU

Answer 33

PAH gene

Question 34

How to treat PKU?

Answer 34

- low protein diet | - Phe free medical formila