DISCLAIMER

This guideline has made possible through support provided by the U.S. Agency for International Development (USAID) under Primary Health Care
Project in Iraq (PHCPI) implemented by University Research Co,. LLC. This guideline has been developed in Iraq in close collaboration with the
Ministry of Health (MoH) in 2014

:






:

A







B

:

:
)(CHT
)(PKU
)(GAL

) (NBS
.

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. .


.

.

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2013 :
.

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) (CHT ) (DELFIA
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).(NICU

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.
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- 3

2


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. .
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.

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. "
"McCaman" " Robins .1962
. .
. .
390 486.

.3

.
-1- .

GAL-1-P + H2O --- AP ----------- GAL + P

GAL + O2 ----- GOD-- GHD + H2O2

HPPA+H2O2-- POD -- HPPA- - dimer + H2O2 -

GAL 1-P = Galactose 1- phosphate

AP = Alkaline phosphatase
GAL = Galactose
P = Phosphate
GAO = Galactose oxidase
GHD = D- galactose-hexadialdose
POD = Peroxidase
HPPA = 3 ( p-hydroxyphenyl)propionic acid

11

 .
(1 ) :(FreeT4
) (ELFA .

(2 : .

.

(3 : )) (GALT -1--(
.

) ( :

12

 ) (

)(GAL

: . ) (
%50 10-7

.
) ( . : 60 )( .
. . .

: ) GALT .

.
( : Hill

) -1-(
"" classic galactosemia 50
.GALT : 60 .
GALT
-1- .

%99 :
.

: .

:
%60
%80

.

13



.
-1- - ).(GALT

)( .

)(

. %10
.
.classic galactosemia
.

. .

.classic galactosemia
.
.

.

14


: :

.1 ) :(Hill ) 20 .1 /(

. Hill
-1- . .
)
.(Hill

.2 :
. ) ( 1:2000 .
%50 .
. .GALT

: . GALT
. 20 / <3.5 u/dL
-1-
- .
.

.
20 / <3.5 u/dL




)
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: ( )
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.

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. .4
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.

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.

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. ) 100 300
( 1 400 100.

. .5

.6 .

.7
.

16



+ Cows and Infrosoy
Gate
+ SMA Weysoy
+ Mead Johnson Prosobee
+ Farlys Pralys Soy

+ Abbott Isomil
MCT SHS MCT
Peptide
0.8- Mead Pregestmil
100 / Johinson
3 100 / Mead Johnson Enfamil

10 100 / Nestle Al1/0

13 100 / Cows and Galactomin
Gate

.
) ( .
.

.
. .
. .

17

 )(PKU

o
) .(000 1:10

o

- .
) -


(.
PAH ) .
3-1 o O2 .(BH4
- HPA
. BH4

o PAH .(BH4) tetrahydrobiopterin


BH4 PAH BH4

) (.

18

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.
70-50 35 90-88 .65 5-2
.
.

. .
.
.
) (%25 %50 ).(EEG

. .
24 1200 / .
24 48 .

) (

)/( )(
0.4-0.2 2-0
5 0 4-2
0.6 8-4
o. I 1-8
2 1 10

19


) (

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.


.
.

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.

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) (
. % 90
. ) 1200-240
/( 24 .
24 .
3) (
6 / ) 360 /( .

.

) (:

) 2.5-2 /(
. ) (MS / MS
. / ) (3

.


.

20

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BH4 4 8 . )400
/( .
) 100 /( 3 . BH4
PAH BH4
BH4.

< 190 / - 48
/ <3.0 .
-
.
-
/ .
-
.
-
.

.
) ( < 6 / ) 360 /(
.
) > 16 /(

.
2001 2 6 /
2 15 / .
) 10-2 /( .
.

21

 :

3
3 .
4 12.
6 :
12.
4- .

. .
2001
. ) tetrahydrobiopterin (BH4
PAH
.

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15 / .

.

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: ) ( .

:


) / (
) (
:
.

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50 1 .

.
. .
.

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: .
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. "
(BH4) " tetrahydrobiopterin .

24



1:3,000 :

: ) T4( TSH
) (

: %90 %10

: 85 :
15 :

: T4
TSH
.

: 24

:

.
>10 T4 /
10
.IQ.16

): (CH .
1:3000 . 2:1 / .
) 1:140 (.

) :(2

25



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3
.

.

.
%10 .
.

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) :(3

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( .%15 )
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. T4 TSH
.

.
) . (

: . . T4 /
) ( TSH

.
.
.
T4 /
. . TSH
) ( 200 /-0
11.

)(TBG T4 /
. ) ( TSH
)
(

26

 ) (

T4 /
. . TSH

.

) ( : T4
TSH .
T4 .
) ( :
: T4 TSH

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:
) (CH . .
.
. .

.1
) ( .
.
.

15-10 / / 50 /
. TSH .
TSH .

) 50-25 / ( ) 10-8 / /
( . .

T4 TSH .

T4 .TSH

4-2

6 .

12- 6 .

27

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.

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31



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.
. / / /
.
. / .
. / / .
. / / / .
. / / .
. / / /
.
. / / .
. / / / .
. / / /
.
. / / /
.
. / / /
.
. / / / .
. / .
. / / . /
.
. / / .
. / / .

32


UK Galactosemia steering group
Manchester children hospital J.H.Walter Biochemist
Great Ormond Street Hospital for children,J.E. Collin Specialist
Institute of Child health London-UK J.V.Leonard Specialist
De dios, K., Estrada, S., Chiong, MA. Galactosemia in three Filipino patients the
importance of Newborn Screening. Acta Medica Philippina. Vol 43 No. 2 2009. pp.15-17.

Galactosemia. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230400. Accessed on

April 28, 2009.

Holton, J. B., Walter, J. H., Tyfield, L. A. Galactosemia. In: Scriver, C. R., Beaudet, A. L.,
Sly, W. S., Valle, D. (eds.) The Metabolic and Molecular Bases of Inherited Disease. Vol. II.
New York: McGraw-Hill 7th ed. 1553-1587, 2001.

Kaye CI and the Committee on Genetics. Newborn screening Fact Sheets. Pediatrics. 2006;
118: 934-963

Newborn Screening Center Prevalence Update 2009. Available at: http://www.nsrcnih.

org.ph/images/stories/ResourcesPrevalence/prevalenceupdate09.pdf

Nelson 19th edition

Myoclinic Centeremedicine.medscape.com/article/919758-overview
www.newbornscreening.info/Parents/.../CH.htmlpediatrics.aappublications.org/content/117/6/
2290.full
Guidelines on newborn screening and therapy for congenital hypothyroidism have been
released by the American Academy of Pediatrics
SYMPOSIUM ON DIETARY MANAGEMENT OF DISEASE
The dietary management of phenylketonuria
By JENNIFER COUTTS, Royal Manchester Childrens Hospital, Pendlebury,
Manchester M27 IHA

Newborn screening sample collection guidelines

Detailed information about the newborn screening program, including correct sample
collection techniques, can be found in the e-learning tool available at:
www.vcgs.org.au/pathology/nbs

Florida
Newborn Screening Guidelines
2012

PRESENT NEWBORN SCREENING FOR PHENYLKETONURIA

Frances E. Doughertyl* and Harvey L. Levy2

33

 IDivision ofGenetics, Scottish Rite Children's Medical Center, Atlanta,
Georgia 2Division ofGenetics, Children's Hospital, and Department ofPediatrics,
Harvard Medical School, Boston, Massachusetts

A Laboratory Guide to Newborn Screening in the UK for PKU /March 2011

Review date: March 2013/1st edition of the guide
www.newbornbloodspot.screening.nhs.uk

A guide for prenatal education /This project was developed by Stacey Dickert, a graduate
student at Emerson College, in collaboration with Susan Waisbren, PhD, Childrens Hospital
Boston. 2008

An update of the UK Newborn Screening Programme Centres / Guidelines for Newborn

Blood Spot Sampling, February 2012.

The Northwest Regional Newborn Screening Program Oregon Practitioners Manual Oregon
Health & Science University Cary Harding, MD Stephen L. LaFranchi, MD Gregory Thomas,
MD Michael Wall, MD Oregon Health Authority Public Health Michael R. Skeels, PhD, MPH
Cheryl A. Hermerath, MBA, DLM (ASCP), RM (NRM) Lindsey Caudle, RN, BSN Becky J.
Whittemore, MN, MPH, FNP 9th Edition, 2010

Maine Newborn Bloodspot

Screening Program
PROVIDER MANUAL
Maine Department of Health and Human Services
Maine Center for Disease Control and Prevention
Newborn Bloodspot Screening Program

Understanding Galactosemia A Diet Guide / Third edition 2010

www.ccrc.uga.edu/~steet/.../lectures/PKU%20lecture.pdf

Phenylketonuria (PKU). - classic inborn error of ... 1960s: treatment of PKU with low
phenylalanine diet shown to be effective ... Pathophysiology of PKU

Congenital Hypothyroidism: Initial Clinical Referral Standards and Guidelines

Implementation date: 1 April 2013

34

 PKU

: )
( .

) / (

) (

: :
.

) (:

50

30
80 :
30
25 :
25 :
55
20 10 ) (
45 :

PKU CRC

35

 ) (:

: ) (

"":

/ :

) (

)(

- )(

)(

) (

) (

36

 37

The role of PHC C in
the project

PHC

-1 ) (4
-2 )( filter paper
- 3
- 4

) (

ve ve

38



/
--------------------------
--------------------------

-------------------------------------
--------------------------------------------
----------------------------------------
----------------------------------

) :
(

------------------------ ----------------------------

) (

---------------------------------
----------------------------- ---------------------------

--------------------------------- -------------------------------------

) (

------------------------------------------- ----------------------------------------

------------------------------------------- ------------------------------------------

39

 )
(

. / / /
.
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.
. / / .
. / / / .
. / / /
.
. / / /
.
. / / /
.
. / / / .
. / .
. / / . /
.
. / / .
. / / .

U.S. Agency for International Development
Primary Health Care Project In Iraq
http://phciraq.org/
www.usaid.gov