Mei 2012
3
Inhoudsopgave
1
Introductie............................................................................................................................................4
1.1
Zorgpad...............................................................................................................................4
1.2
Samenwerking ....................................................................................................................4
1.3
Patiëntenvereniging............................................................................................................5
1.4
Leeswijzer ...........................................................................................................................5
2
Isovaleriaanacidurie .............................................................................................................................6
2.1
Klachten bij presentatie en ontregeling ..............................................................................7
2.2
Diagnose .............................................................................................................................7
2.3
De behandeling...................................................................................................................8
3
Begeleiding – Kinderen...................................................................................................................... 11
3.1
Patiënt en ouders..............................................................................................................12
3.2
Casemanager ....................................................................................................................12
3.3
Kinderarts metabole ziekten .............................................................................................12
3.4
Vaste medebehandelaren: diëtist .....................................................................................15
3.5
Overige betrokken zorgverleners......................................................................................16
3.6
Overige aandachtspunten.................................................................................................17
4
Begeleiding – Volwassenen............................................................................................................... 19
4.1
Patiënt ..............................................................................................................................20
4.2
Casemanager ....................................................................................................................20
4.3
Internist metabole ziekten................................................................................................20
4.4
Vaste medebehandelaren: diëtist .....................................................................................22
4.5
Overige betrokken zorgverleners......................................................................................23
4.6
Overige aandachtspunten.................................................................................................24
5
Kwaliteitsindicatoren ........................................................................................................................ 25
6
Verklarende woordenlijst.................................................................................................................. 26
7
Consensus zorgpad Isovaleriaanacidurie ......................................................................................... 28
8
Disclaimer.......................................................................................................................................... 28