Oktober 2012
4
Inhoudsopgave
1
Voorwoord ...........................................................................................................................................4
1.1
Expertisecentrum ..............................................................................................................4
1.2
Patiëntenvereniging ..........................................................................................................5
1.3
Leeswijzer..........................................................................................................................5
2
Carbamoyl Fosfaat Synthase 1 Deficiëntie...........................................................................................6
2.1
Presentatie ........................................................................................................................6
2.2
Diagnostiek........................................................................................................................7
2.3
Behandeling.......................................................................................................................8
3
Begeleiding – Kinderen ......................................................................................................................14
3.1
Patiënt en/of ouders .......................................................................................................15
3.2
Casemanager ...................................................................................................................15
3.3
Kinderarts Metabole Ziekten ...........................................................................................15
3.4
Vaste medebehandelaren: diëtist....................................................................................19
3.5
Overige betrokken zorgverleners ....................................................................................20
4
Begeleiding – Volwassenen................................................................................................................23
4.1
Patiënt .............................................................................................................................24
4.2
Casemanager ...................................................................................................................24
4.3
Internist metabole ziekten ..............................................................................................24
4.4
Vaste medebehandelaren: diëtist....................................................................................27
4.5
Overige betrokken zorgverleners ....................................................................................28
5
Kwaliteitsindicatoren .........................................................................................................................31
6
Referentielijst .....................................................................................................................................32
7
Consensus zorgpad Carbamoyl Fosfaat Synthase 1 Deficiëntie.........................................................34
8
Disclaimer...........................................................................................................................................34