Februari 2012
3
Inhoudsopgave
1
Voorwoord .....................................................................................................................................4
1.1
Expertise centrum ........................................................................................................ 4
1.2
Patiëntenvereniging ..................................................................................................... 5
1.3
Leeswijzer .................................................................................................................... 5
2
LCHADD/MTPD ...............................................................................................................................6
2.1
Presentatie .................................................................................................................. 6
2.2
Diagnostiek .................................................................................................................. 6
2.3
Behandeling ................................................................................................................. 7
3
Begeleiding – Kinderen ...................................................................................................................9
3.1
Patiënt en/of ouders ...................................................................................................10
3.2
Casemanager ..............................................................................................................10
3.3
Kinderarts Metabole Ziekten .......................................................................................10
3.4
Vaste medebehandelaren: diëtist ................................................................................13
3.5
Vaste medebehandelaren: kinderneuroloog.................................................................14
3.6
Vaste medebehandelaren: kinderfysiotherapeut ..........................................................15
3.7
Vaste medebehandelaren: kindercardioloog ................................................................15
3.8
Vaste medebehandelaren: oogarts ..............................................................................15
3.9
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 ................................................................................21
4.5
Vaste medebehandelaren: neuroloog ..........................................................................22
4.6
Vaste medebehandelaren: fysiotherapeut....................................................................22
4.7
Vaste medebehandelaren: cardioloog ..........................................................................22
4.8
Vaste medebehandelaren: oogarts ..............................................................................22
4.9
Overige betrokken zorgverleners .................................................................................22
5
Kwaliteitsindicatoren ....................................................................................................................24
6
LCHADD/MTPD – Latest Evidence .................................................................................................25
6.1
Referenties .................................................................................................................26
7
Consensus zorgpad LCHADD en MTP-deficiëntie ...........................................................................28
8
Disclaimer.....................................................................................................................................28