Sly Syndrome

By:
Michael Lutchenkov, Donovan Dicks,
Handa Chun, and Akshay Anil
 Names
MPS VII (Mucopolysaccharidosis VII [technical
name])
Sly Syndrome
GUSB deficiency
Beta-Glucuronidase Deficiency
 Symptoms
Corneal clouding
Skeletal irregularities
Liver enlargement
Spleen enlargement
Intellectual impairment
Bone defects
Difficulty breathing
Hearing loss
Hunched back
 Cause
The GUSB gene is located on
chromosome 7
 Cause
The gene mutations contain both
substitution and deletion
 Detection (Complicated)
Presence of several pseudogenes (section of a
chromosome that is an imperfect copy of a
functional gene) on chromosomes 5, 6, 7, 22,
22 and Y. These pseudogenes can be detected
with probes from exons 2, 3,4, 6, 7, and 11 of
the wild-type GUSB gene.
 Detection (Simplified)
People that are experiencing the symptoms
have a variety of cells or blood tested in
culture for enzyme deficiency
 Management
There are no known ways to manage the
disease
 Treatment
Stem cell transplantation
Bone marrow transplantation
There is no effective treatment but the two
above have shown some success.
There is no definitive cure
 National Societies
There is a National MPS Society
which raises awareness and provides
information for all forms of MPS
 Sources
http://www.rightdiagnosis.com/m/mucopolys
accharidosis_vii
http://www.mpssociety.org
http://www.ultragenyx.com/index.php?ht=d/J
oin/pid/1619
 Sources
http://children.webmd.com/sly-syndrome
http://www.checkorphan.org/disease/sly-
syndrome
http://ghr.nlm.nih.gov/condition/mucopolysac
charidosis-type-vii