Mei 2012
3
Inhoudsopgave
1
Voorwoord ...........................................................................................................................................4
1.1
Expertise centrum .............................................................................................................4
1.2
Patiëntenvereniging ..........................................................................................................5
1.3
Leeswijzer..........................................................................................................................5
2
Propionacidurie ....................................................................................................................................6
2.1
Presentatie ........................................................................................................................6
2.2
Diagnostiek........................................................................................................................7
2.3
Behandeling.......................................................................................................................7
3
Begeleiding – Kinderen...................................................................................................................... 12
3.1
Patiënt en/of ouders .......................................................................................................13
3.2
Casemanager ...................................................................................................................13
3.3
Kinderarts metabole ziekten............................................................................................13
3.4
Vaste medebehandelaren: diëtist....................................................................................18
3.5
Overige betrokken zorgverleners ....................................................................................19
4
Begeleiding – Volwassenen............................................................................................................... 21
4.1
Patiënt .............................................................................................................................22
4.2
Casemanager ...................................................................................................................22
4.3
Internist metabole ziekten ..............................................................................................22
4.4
Vaste medebehandelaren: diëtist....................................................................................25
4.5
Overige betrokken zorgverleners ....................................................................................26
5
Kwaliteitsindicatoren ........................................................................................................................ 28
6
Referentielijst .................................................................................................................................... 29
7
Consensus zorgpad Propionacidurie ................................................................................................ 32
8
Disclaimer.......................................................................................................................................... 32