Mei 2012
3
Inhoudsopgave
1
Voorwoord ...........................................................................................................................................4
1.1
Expertise centrum .............................................................................................................4
1.2
Patiëntenvereniging ..........................................................................................................5
1.3
Leeswijzer..........................................................................................................................5
2
Methylmalonacidurie ...........................................................................................................................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....................................................................................19
3.5
Overige betrokken zorgverleners ....................................................................................20
4
Begeleiding – Volwassenen............................................................................................................... 22
4.1
Patiënt .............................................................................................................................23
4.2
Casemanager ...................................................................................................................23
4.3
Internist metabole ziekten ..............................................................................................23
4.4
Vaste medebehandelaren: diëtist....................................................................................27
4.5
Overige betrokken zorgverleners ....................................................................................28
5
Kwaliteitsindicatoren ........................................................................................................................ 31
6
Referentielijst .................................................................................................................................... 32
7
Consensus zorgpad Methylmalonacidurie....................................................................................... 35
8
Disclaimer.......................................................................................................................................... 35