Oktober 2012
3
Inhoudsopgave
1
Voorwoord ...........................................................................................................................................4
1.1
Expertise centrum .............................................................................................................4
1.2
Patiëntenvereniging ..........................................................................................................5
1.3
Leeswijzer..........................................................................................................................5
2
Maple Syrup Urine Disease ..................................................................................................................6
2.1
Presentatie ........................................................................................................................6
2.2
Diagnostiek........................................................................................................................7
2.3
Behandeling.......................................................................................................................8
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....................................................................................17
3.5
Overige betrokken zorgverleners ....................................................................................18
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
Overige betrokken zorgverleners ....................................................................................25
5
Kwaliteitsindicatoren ........................................................................................................................ 27
6
Referentielijst .................................................................................................................................... 28
7
Consensus zorgpad Maple Syrup Urine Disease ............................................................................... 30
8
Disclaimer.......................................................................................................................................... 30