Januari 2012
3
Inhoudsopgave
1
Voorwoord ...........................................................................................................................................4
1.1
Expertise centrum .............................................................................................................4
1.2
Patiëntenverenigingen ......................................................................................................4
1.3
Leeswijzer..........................................................................................................................5
2
Phenylketonurie ...................................................................................................................................6
2.1
Presentatie ........................................................................................................................6
2.2
Diagnostiek........................................................................................................................6
2.3
Behandeling.......................................................................................................................7
3
Begeleiding – Kinderen...................................................................................................................... 10
3.1
Patiënt en/of ouders .......................................................................................................11
3.2
Casemanager ...................................................................................................................11
3.3
Kinderarts Metabole Ziekten ...........................................................................................11
3.4
Vaste medebehandelaren: diëtist....................................................................................15
3.5
Overige betrokken zorgverleners ....................................................................................16
4
Begeleiding – Volwassenen............................................................................................................... 19
4.1
Patiënt .............................................................................................................................20
4.2
Casemanager ...................................................................................................................20
4.3
Internist Metabole Ziekten ..............................................................................................20
4.4
Vaste medebehandelaren: diëtist....................................................................................25
4.5
Overige betrokken zorgverleners ....................................................................................26
5
Kwaliteitsindicatoren ........................................................................................................................ 28
6
Referentielijst .................................................................................................................................... 29
7
Consensus Zorgpad Phenylketonurie................................................................................................ 32
8
Disclaimer.......................................................................................................................................... 32