ERT – Gaucher disease — RACP Paediatrics MCQ

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EasyGeneticsERT – Gaucher diseaseRACP Paediatrics

A child with Gaucher disease type 1 receives regular IV infusions of imiglucerase to replace the deficient glucocerebrosidase enzyme. What category of treatment is this?

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Correct answer: B — Enzyme replacement therapy

Enzyme replacement therapy (ERT) provides exogenous recombinant enzyme to replace the deficient lysosomal enzyme. In Gaucher disease, imiglucerase (or velaglucerase) is given IV every 2 weeks. ERT is also available for Fabry, Pompe, MPS I/II/IV/VI/VII, and acid sphingomyelinase deficiency. ERT does not cross the blood-brain barrier, limiting its efficacy for CNS manifestations.

Reference: RACP Paediatric Curriculum – Genetics/Metabolic; RCH Melbourne – 2023