Vorige

Lysosomale Zure Lipase activiteit (LAL-D)

Activiteitsbepaling van de lysosomale zure lipase activiteit in bloedspots

Lysosomale zure lipase deficiëntie (LALD, voorheen Wolman disease en Cholesterol ester storage disease) wordt veroorzaakt door een tekort aan activiteit van het lysosomale enzym zure lipase. Hierdoor vindt stapeling plaats van cholesterol esters en triglyceriden voornamelijk in de lever, milt en macrofagen. Deze stapeling leidt tot vergroting en vervetting van de lever en de milt. In plasma worden vaak verhoogde waarden van totaal cholesterol (verhoging van LDL en verlaging van HDL), triglyceriden en transaminasen gevonden.                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                            

We onderscheiden vroege (neonatal-onset)  en late-onset (kinderen en volwassenen) subtypen (voorheen respectievelijk Wolman disease en Cholesterol ester storage disease genoemd). Er zijn mogelijkheden voor behandeling.

Soort en benodigde hoeveelheid materiaal

Voor het uitvoeren van deze bepaling is een goedgevulde bloedspot of 1 ml heparinebloed (niet afdraaien) nodig.

Verzendcondities

Bloedspotkaarten zijn verkrijgbaar via het secretariaat (tel. 088 - 75 553 18) en kunnen per post verstuurd worden in de bijbehorende antwoordenvelop.

Doorlooptijd

Deze analyse valt onder de categorie Basis Metabool onderzoek.