1. F.Ahmadbadi Child neurologist ARUMS
Pku sCREENING
F.Ahmadbadi Child neurologist ARUMS

2. Objectives Epidemiology of PKU in Iran and world Definitions and types
Biochemical view
Clinical Manifestations
Diagnosis
Screening
Treatment

3. Epidemiology & Genetic
Prevalence:1/6000-1/10000
Brazil, china,Lativa:1/20000
AR transmission
F=M
In a study in Shiraz 1/4700
2-3% of causes of MR s

4. Ph A level more than 6 and Tyrosine low than 5
Definition:
Ph A level more than 6 and Tyrosine low than 5
Types of PKU
Classic
Malignant(2% of cases)
Transient phenylalaninemia

5. Phenylketonuria
Phenylalanine Tyrosine Phenyl ketones
PAH
THB

6. BH4 is necessary for: Hydroxylation
Tryptophan Serotonin Tyrosine Dopamine
Hydroxylation

7. Clinical manifestation
Normal at birth
Severe MR(IQ<30)
Blound appearance
Odor
Microcephalia
Seborroic dermatitis
Dominant maxilla

8. Diagnosis Ferric chloride test(urin phenyl ketones)
Guthrie test  Screening test
MS/MS
Phenylalanin>6mg/dlit(360 mic M)  Diagnostic test
Thyrosin (low)
Phenylalanine hydroxylase gene probe

9. (Filter paper or Serum) Under observe till 1 week
PhA Level
<4mg/dl
Report
4≤mg/dl
Re check
(Filter paper or Serum)
HPLC
<4mg/dl
Report
Screening
For
PKU
In 3rd- 5th day of life
Under observe 6mo-1 year
And then Challenge test
>4mg/dlit
4-10 mg/dlit
>10 mg/dlit
Under observe till 1 week
&
PhA Recheck
Diet
&
Treatment
4-7 mg/dlit
7≤ mg/dlit

10. Specimen Collection

12. False Negative Technical errors Method Humidity Hemodialyse
First days of life(1-2)
The false-negative rates ranged from 2% to 31% for the first day of life, but decreased to 0.6% to 2% on the second day and to 0.3% by the third day
Technical errors
Method
Humidity
Hemodialyse
Exchange Transfusion
NPO

13. False Positive In certain situations and population conditions, the ratio of false positives to true positives is as high as 32 to 1.8
Buffy coat in sample
Hemolysis
Prematurity
Liver diseases
Tyrosinemia
Renal diseases
TMP-SMX
Maternal PKU

14. Treatment Low phenylalanin Regimen (Phenylalanin2-6mg/dlit)
Treatment must start in first 7-10 days of life.
It must be continued till yrs old or even lifelong.
In malignant PKU, Neurotransmitters are needed.
(BH4-Dopamin_serotonine)
Maternal hyperphenylallanenimiaMR-Microcephallia-CHD

15. Lofenolac
Comida(A,B,C)
Xp-Analog
Xp-Maxamaid
Xp-Maxamum

16. Some drugs such as Farmentin have aspartame and thus not suitable for PKU cases
Diet drinks (carbonated) have Aspartame.

17. With the Best Wishes