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Understanding Lysosomal Storage Disorders: Focus on Mucopolysaccharidoses

Explore the complexities of lysosomal storage diseases including Mucopolysaccharidoses, Sphingolipidoses, and Mucolipidoses. This educational resource delves into the genetic and biochemical aspects, enhancing understanding of...

Questions: 4 | Attempts: 10 | Last updated: Oct 22, 2025

Sample Question 1
Because MPC Hurlers and Hunters syndromes are so similar, what can tell them apart?

Hurlers: -Symptoms begin at a few months-corneal clouding-Autosomal RecessiveHunters: -Symptoms begin at 2 yrs-no corneal clouding -x-linkedHow to never forget?To be a Hunter, you need two eyes to aim for the X!

Symptoms begin at birth for both syndromes

Hurlers have no corneal clouding while Hunters do

Hurlers is an X-linked syndrome while Hunters is Autosomal Recessive

Sample Question 2
Sanfilippo syndrome (MPS III)-What is the defect? - The effects?

- Defect in heparan sulphate degradation (types A-D) - Normal development for first 1-2 yrs, followed by - Progressive mental retardation & increasing behavioural disturbance - Aggressive behaviour & destructiveness - Hyperactivity - Sleep disturbance (Hurler = most severe MPS... but children with Sanfilippo live longer with more severe behavioural problems)

- Defect in mitochondrial DNA replication - Chronic pain & inflammation - Sensory processing issues

- Defect in collagen production - Vision impairment - Respiratory issues

- Defect in lysosome function - Delayed physical growth & development - Decreased energy levels

Sample Question 3
What enzyme deficiency is associated with Maroteaux-Lamy syndrome (MPS VI)?

- Deficiency of arylsulphatase B Similar to Hurler but normal IQ

Deficiency of N-acetylgalactosamine-6-sulfatase

Deficiency of alpha-L-iduronidase

Deficiency of iduronate-2-sulfatase

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