Mei 2012
3
Inhoudsopgave
1
Voorwoord ...........................................................................................................................................4
1.1
Expertise centrum .............................................................................................................4
1.2
Patiëntenvereniging ..........................................................................................................5
1.3
Leeswijzer..........................................................................................................................5
2
Glutaaracidurie type 1..........................................................................................................................6
2.1
Presentatie ........................................................................................................................6
2.2
Diagnostiek........................................................................................................................7
2.3
Behandeling.......................................................................................................................7
3
Begeleiding – Kinderen ......................................................................................................................11
3.1
Patiënt en/of ouders .......................................................................................................12
3.2
Casemanager ...................................................................................................................12
3.3
Kinderarts metabole ziekten ...........................................................................................12
3.4
Vaste medebehandelaren: diëtist....................................................................................16
3.5
Vaste medebehandelaren: (kinder)neuroloog .................................................................17
3.6
Overige betrokken zorgverleners ....................................................................................17
4
Begeleiding – Volwassenen................................................................................................................19
4.1
Patiënt .............................................................................................................................20
4.2
Casemanager ...................................................................................................................20
4.3
Internist metabole ziekten ..............................................................................................20
4.4
Vaste medebehandelaren: diëtist....................................................................................23
4.5
Vaste medebehandelaren: neuroloog .............................................................................24
4.6
Overige betrokken zorgverleners ....................................................................................24
5
Kwaliteitsindicatoren .........................................................................................................................26
6
Referentielijst .....................................................................................................................................27
7
Consensus zorgpad Glutaaracidurie Type 1 .......................................................................................29
8
Disclaimer...........................................................................................................................................29