Oktober 2012
3
Inhoudsopgave
1
Voorwoord ...........................................................................................................................................4
1.1
Expertise centrum .............................................................................................................4
1.2
Patiëntenvereniging ..........................................................................................................5
1.3
Leeswijzer..........................................................................................................................5
2
Argininosuccinaat Lyase Deficiëntie.....................................................................................................6
2.1
Presentatie ........................................................................................................................6
2.2
Diagnostiek........................................................................................................................8
2.3
Behandeling.......................................................................................................................8
3
Begeleiding – Kinderen...................................................................................................................... 15
3.1
Patiënt en/of ouders .......................................................................................................16
3.2
Casemanager ...................................................................................................................16
3.3
Kinderarts metabole ziekten............................................................................................16
3.4
Vaste medebehandelaren: diëtist....................................................................................21
3.5
Overige betrokken zorgverleners ....................................................................................22
4
Begeleiding – Volwassenen............................................................................................................... 24
4.1
Patiënt .............................................................................................................................25
4.2
Casemanager ...................................................................................................................25
4.3
Internist metabole ziekten ..............................................................................................25
4.4
Vaste medebehandelaren: diëtist....................................................................................29
4.5
Overige betrokken zorgverleners ....................................................................................29
5
Kwaliteitsindicatoren ........................................................................................................................ 32
6
Referentielijst .................................................................................................................................... 33
7
Consensus zorgpad Argininosuccinaat Lyase Deficiëntie.................................................................. 36
8
Disclaimer.......................................................................................................................................... 36