Week 5: Medical Genetics- MPS Flashcards
Inheritance of Hurler Syndrome
AR
GAG stored in Hurler Syndrome
Dermatan sulfate and Heparan sulfate
3 major features of Hurler syndrome
Developmental regression, coarse face, corneal clouding
Inheritance of Hunter Syndrome
XL
GAG stored in Hunter syndrome
Dermatan sulfate and Heparan sulfate
3 major features of Hunter syndrome
Developmental regression, coarse face, no corneal clouding
Inheritance of Sanfillipo Syndrome
AR
GAG stored in Sanfillipo Syndrome
Heparan sulfate
3 major features of Sanfillipo Syndrome
CNS disease with ADHD/autistic features, mild coarse face, sleep problems
Inheritance of Morquio syndrome
AR
GAG stored in Morquio syndrome
Keratan sulfate, chondroitin-6-sulfate
3 major features of Morquio syndrome
Bone- short stature, spinal/chest deformity, cardiac valvular disease
Inheritance of Maroteaux Lamy
AR
GAG stored in Maroteaux Lamy
Dermatan sulfate
Age of onset Marateaux Lamy
Birth
3 major features of Maroteaux Lamy
Short stature, HSM, cardiac valve disease
Inheritance of Sly syndrome
AR
GAG stored in Sly syndrome
Dermatan sulfate, heparan sulfate, chondroitin-4-sulfate, chondroitin-6- sulfate
3 major features of Sly syndrome
Non-immune hydrous, dysostosis multiplex; later resembles Hunter/Hurler
Gene in Hurler Syndrome
IDUA
Treatment for Hurler Syndrome
HSCT, ERT
Gene in Hunter Syndrome
IDS
Treatment for Hunter Syndrome
HSCT, ERT
Genes in Sanfillipo Syndrome
GNS, HGSNAT, NAGLU, SGSH
