Newborn Screening Flashcards
What is the role of national newborn screening program
- For inborn error of metabolism
- endocrine disorder
How to decide which disease to be screened
- important health problem
- available test
- available diagnostic\treatment
- benifits > risk
,what are the new diseases included in newborn screening program
- hearing test
- cyanotic heart disease
How is the screening done for newborn
- Guthrie card by heel prick
What is the duration of guthrie card heel prick
24-72 hours
What is the test used in the guthrie card?
Tandom mass spectoscopy
What causes increased incidence of inborn error of metabolism (1:1043)
Consequity and first cousin marrige
What is the most prevalent disabling condition worldwide?
Hearing impairment
What are the risk factors for hearing loss at birth
- family hx
- infections and meningitis
- ototoxic medics
- LBW <1500
- craniofacial abn and syndrome
- hyperbilli requiring exchange transfusion
- asphyxia And mechanical venilation
How to preform the newborn hearing screen?
Transient otoacoustic emission
How to preform the CCHD screen
Pulse oximetery
What is maple syrup urine disease?
The body can’t break down branched amino acids > buildup of valine, lucine and isolucine
What are the byproducts of leucine, isoleucine and valine
- leucine: Acetylchoa
- Iso: Acetyle + Succinyl
- Valine: Succinyle
What happens in maple syrup urine disease?
- at birth
Asymptomatic
What happens in maple syrup urine disease?
- first day
Elevated branched amino acids
Leucine, isoleucine, valine
What happens in maple syrup urine disease?
- 2-3 days
Non-specific signs of metabolic intoxication
Irritability, anorexia, hypersomonlence
What happens in maple syrup urine disease?
- 4 to 6 days
- Worsening encephalopathy
(Lethargy, apnea, fencing\cycline) - odor of maple syrup in urine
What happens in maple syrup urine disease?
- seven to ten days
Severe intoxication (cerebral edema, coma and respiratory failure)
How to diagnose maple serup urine disease
- TMS: elevated leucine and alloisoleucine
- basic: metabolic acidosis and ketonuria
- genetic: homozygous mutation of MSUD gene
How to confirm MSUD?
Homozygous mutation in MSUD genes
How to treat MSUD?
- leucine restriction in diet
- enteral thiamine trial
- liver transplant
What is the mode of inhertence in MSUD
Autosomal receissive
Does liver transplant reverse the psychomotor diability and mental illness in newborn with MSUD?
No
What is the enzymatic abnormality in galactosemia?
GALT enzyme deficiency
What is the final outcome of galactosemia?
Cataract and pseudotumor cecrebri
How does GALT def cause the osmotic effects?
Galactose is converted into galactitol
What happens if you don’t treat galactosemia
1- feeding problem 2- failure to thrive 3- hepatocellular damage 4- bleeding 5- E coli sepsis
What is the common organism to cause sepsis in galactosemia patient
E-coli
How to diagnose galactosemia?
1- high erythrocyte (G1phosphate)
2- low erythrocyte (G1phosphate uridyltranserase GALT enzyme)
3- genetic GALT mutaiton
What is the enzyme deficiant in PKU?
Phenylanaline hydroxylase
What are the clinical mainfestations of PKU
1- epilepsy 2- ID 3- musty body odor 4- eczema 5- decreased skin\hair pigmentation
What is the cutoff point for phenylanaline concentration to diagnise PKU?
> 120
What is the mutation in pPKU
PAH gene
How to treat PKU?
- low protein diet
- Phe free medical formila
