Newborn Screening Flashcards

1
Q

What is the role of national newborn screening program

A
  • For inborn error of metabolism

- endocrine disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

How to decide which disease to be screened

A
  • important health problem
  • available test
  • available diagnostic\treatment
  • benifits > risk
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

,what are the new diseases included in newborn screening program

A
  • hearing test

- cyanotic heart disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

How is the screening done for newborn

A
  • Guthrie card by heel prick
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the duration of guthrie card heel prick

A

24-72 hours

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the test used in the guthrie card?

A

Tandom mass spectoscopy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

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

A

Consequity and first cousin marrige

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is the most prevalent disabling condition worldwide?

A

Hearing impairment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the risk factors for hearing loss at birth

A
  • family hx
  • infections and meningitis
  • ototoxic medics
  • LBW <1500
  • craniofacial abn and syndrome
  • hyperbilli requiring exchange transfusion
  • asphyxia And mechanical venilation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

How to preform the newborn hearing screen?

A

Transient otoacoustic emission

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

How to preform the CCHD screen

A

Pulse oximetery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is maple syrup urine disease?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are the byproducts of leucine, isoleucine and valine

A
  • leucine: Acetylchoa
  • Iso: Acetyle + Succinyl
  • Valine: Succinyle
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What happens in maple syrup urine disease?

  • at birth
A

Asymptomatic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What happens in maple syrup urine disease?

  • first day
A

Elevated branched amino acids

Leucine, isoleucine, valine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What happens in maple syrup urine disease?

  • 2-3 days
A

Non-specific signs of metabolic intoxication

Irritability, anorexia, hypersomonlence

17
Q

What happens in maple syrup urine disease?

  • 4 to 6 days
A
  • Worsening encephalopathy
    (Lethargy, apnea, fencing\cycline)
  • odor of maple syrup in urine
18
Q

What happens in maple syrup urine disease?

  • seven to ten days
A

Severe intoxication (cerebral edema, coma and respiratory failure)

19
Q

How to diagnose maple serup urine disease

A
  • TMS: elevated leucine and alloisoleucine
  • basic: metabolic acidosis and ketonuria
  • genetic: homozygous mutation of MSUD gene
20
Q

How to confirm MSUD?

A

Homozygous mutation in MSUD genes

21
Q

How to treat MSUD?

A
  • leucine restriction in diet
  • enteral thiamine trial
  • liver transplant
22
Q

What is the mode of inhertence in MSUD

A

Autosomal receissive

23
Q

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

24
Q

What is the enzymatic abnormality in galactosemia?

A

GALT enzyme deficiency

25
What is the final outcome of galactosemia?
Cataract and pseudotumor cecrebri
26
How does GALT def cause the osmotic effects?
Galactose is converted into galactitol
27
What happens if you don’t treat galactosemia
``` 1- feeding problem 2- failure to thrive 3- hepatocellular damage 4- bleeding 5- E coli sepsis ```
28
What is the common organism to cause sepsis in galactosemia patient
E-coli
29
How to diagnose galactosemia?
1- high erythrocyte (G1phosphate) 2- low erythrocyte (G1phosphate uridyltranserase GALT enzyme) 3- genetic GALT mutaiton
30
What is the enzyme deficiant in PKU?
Phenylanaline hydroxylase
31
What are the clinical mainfestations of PKU
``` 1- epilepsy 2- ID 3- musty body odor 4- eczema 5- decreased skin\hair pigmentation ```
32
What is the cutoff point for phenylanaline concentration to diagnise PKU?
>120
33
What is the mutation in pPKU
PAH gene
34
How to treat PKU?
- low protein diet | - Phe free medical formila