Mei 2012
3
Inhoudsopgave
1
Voorwoord ...........................................................................................................................................4
1.1
Expertise centrum .............................................................................................................4
1.2
Patiëntenvereniging ..........................................................................................................5
1.3
Leeswijzer..........................................................................................................................5
2
Midden-keten Acyl-CoA dehydrogenase Deficiëntie ...........................................................................6
2.1
Presentatie ........................................................................................................................6
2.2
Diagnostiek........................................................................................................................7
2.3
Behandeling.......................................................................................................................7
3
Begeleiding – Kinderen...................................................................................................................... 10
3.1
Patiënt en/of ouders .......................................................................................................11
3.2
Casemanager ...................................................................................................................11
3.3
Kinderarts Metabole Ziekten ...........................................................................................11
3.4
Vaste medebehandelaren: diëtist....................................................................................14
3.5
Overige betrokken zorgverleners ....................................................................................15
4
Begeleiding – Volwassenen............................................................................................................... 17
4.1
Patiënt .............................................................................................................................18
4.2
Casemanager ...................................................................................................................18
4.3
Internist Metabole Ziekten ..............................................................................................18
4.4
Vaste medebehandelaren: diëtist....................................................................................20
4.5
Overige betrokken zorgverleners ....................................................................................21
5
Kwaliteitsindicatoren ........................................................................................................................ 23
6
Referentielijst .................................................................................................................................... 24
7
Consensus zorgpad Midden-keten Acyl-CoA dehydrogenase Deficiëntie ........................................ 26
8
Disclaimer.......................................................................................................................................... 26