LYSOSOMAL STORAGE DISEASES- MUCOPOLYSACCHARIDOSES

Question 1

Results from

Answer 1

genetically determined deficiencies of certain lysosomal enzymes

Question 2

All are

Answer 2

autosomal recessive except Hunter Syndrome (x-linked)

Question 3

Very progressive; characterized by

Answer 3

• Coarse facial features
• Clouding of the cornea
• Joint stiffness
• Mental retardation

Question 4

Clinical signs

Answer 4

• Hepatosplenomegaly
• Skeletal deformities
• Valvular lesions
• Subendothelial arterial deposits

Question 5

Examples

Answer 5

▪ Scheie Disease – autosomal recessive

▪ Sanfilippo Disease – autosomal recessive

▪ Morquio Disease – autosomal recessive

▪ Hurler Syndrome – autosomal recessive
• Deficiency of α-L-iduronidase
• In severe form = dwarfism, gargoyle facies, clouding of cornea
o Normal at birth
• Develop hepatosplenomegaly by 6-24 months

▪ Hunter Syndrome – X-linked recessive
• Deficiency of L-iduronate sulfatase
• Milder clinical course than Hurler