skip to main content

SRT – Niemann-Pick C — RACP Paediatrics MCQ

Instant feedback + full explanation. One question, done properly.

HardGeneticsSRT – Niemann-Pick CRACP Paediatrics

A child with Niemann-Pick disease type C receives miglustat, which inhibits glucosylceramide synthase to reduce the accumulation of the storage substrate. What category of treatment is this?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: E — Substrate reduction therapy

Substrate reduction therapy (SRT) reduces the production of the substrate that accumulates in storage disorders, rather than replacing the deficient enzyme. Miglustat inhibits glucosylceramide synthase. It is used in NPC (can cross BBB, unlike ERT) and as an alternative to ERT in mild-moderate Gaucher disease type 1. Eliglustat is another SRT for Gaucher.

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