Understanding Lysosomal Storage Disorders: Focus on Mucopolysaccharidoses

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

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

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

- 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

Sanfilippo syndrome is characterized by a defect in heparan sulphate degradation, leading to progressive mental retardation, increasing behavioural disturbances, aggressive behavior, destructiveness, hyperactivity, and sleep disturbances. The incorrect answers provided do not align with the specific defect and effects seen in Sanfilippo syndrome.

Explanation

Sanfilippo syndrome is characterized by a defect in heparan sulphate degradation, leading to progressive mental retardation, increasing behavioural disturbances, aggressive behavior, destructiveness, hyperactivity, and sleep disturbances. The incorrect answers provided do not align with the specific defect and effects seen in Sanfilippo syndrome.

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

Maroteaux-Lamy syndrome (MPS VI) is caused by a deficiency of arylsulphatase B, leading to the accumulation of glycosaminoglycans. This syndrome is similar to Hurler syndrome but individuals with MPS VI have a normal IQ.

Explanation

Maroteaux-Lamy syndrome (MPS VI) is caused by a deficiency of arylsulphatase B, leading to the accumulation of glycosaminoglycans. This syndrome is similar to Hurler syndrome but individuals with MPS VI have a normal IQ.