Arylsulfatase A

Arylsulfatase A (ook wel cerebroside-sulfatase) is een enzym dat de sulfaatgroep uit sulfaatbevattende vetten knipt (bv. cerebroside 3-sulfaat). Dit is de eerste stap in de afbraak van deze sulfaatbevattende vetten. Een tekort van dit enzym leidt tot een ophoping van deze sulfatiden (zoals cerebroside sulfaat). Dit kan leiden tot metachromatische leukodystrofie. Het gen bevindt zich op chromosoom 22q.

Pathologie

Een deficiëntie van arylsulfatase A leidt tot metachromatische leukodystrofie.

Lees verder

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