Mei 2012
3
Inhoudsopgave
1
Voorwoord ...........................................................................................................................................4
1.1
Expertise centrum .............................................................................................................4
1.2
Patiëntenvereniging ..........................................................................................................5
1.3
Leeswijzer..........................................................................................................................5
2
Isovaleriaanacidurie .............................................................................................................................6
2.1
Presentatie ........................................................................................................................6
2.2
Diagnostiek........................................................................................................................7
2.3
Behandeling.......................................................................................................................8
3
Begeleiding – Kinderen...................................................................................................................... 11
3.1
Patiënt en/of ouders .......................................................................................................12
3.2
Casemanager ...................................................................................................................12
3.3
Kinderarts metabole ziekten............................................................................................12
3.4
Vaste medebehandelaren: diëtist....................................................................................16
3.5
Overige betrokken zorgverleners ....................................................................................17
4
Begeleiding – Volwassenen............................................................................................................... 20
4.1
Patiënt .............................................................................................................................21
4.2
Casemanager ...................................................................................................................21
4.3
Internist metabole ziekten ..............................................................................................21
4.4
Vaste medebehandelaren: diëtist....................................................................................24
4.5
Vaste medebehandelaren: neuroloog .............................................................................25
4.6
Overige betrokken zorgverleners ....................................................................................25
5
Kwaliteitsindicatoren ........................................................................................................................ 27
6
Referentielijst .................................................................................................................................... 28
7
Consensus zorgpad Isovaleriaanacidurie ......................................................................................... 30
8
Disclaimer.......................................................................................................................................... 30