Patients with Hurler's syndrome
showed a marked decline in urine total glycosaminoglycan levels, which is correlated with improved long-term disease outcomes.
She had many of the features of Hurler's syndrome like large head, coarseness of facial features, nasal bridge was depressed, cornea was hazy, tongue was thick, contractures in the joints causing restricted mobility, in the chest there was pectus excavatum and wide ribs (Figure 1).
Hurler's syndrome (MPS IH), which is a prototype of MPS is caused by a deficiency of alpha-L-iduronidase due to a loss of function mutation leading to excessive accumulation of partially degraded GAGs, dermatan sulphate and heparan sulphate within the cells.
"These stem cells, modified so they produce large quantities of the enzyme that people with Hurler's syndrome
lack, offer great hope for a potential new therapy.
Hurler's syndrome is caused by a deficiency of a specific enzyme responsible for degrading complex sugars called glycosaminoglycans (GAGs), accumulation of which can lead to mental retardation, respiratory and cardiac complications, and death in early childhood.
In a recent article, investigators at the University of Minnesota and Athersys described preclinical study results suggesting that MultiStem cells could provide benefit to patients suffering from lysosomal storage disorders, such as Hurler's syndrome.
In the first study to analyze this practice over several years, scientists report success--a high survival rate, manageable side effects, and a general reversal of Hurler's syndrome in most babies getting the treatment.
If both parents carry a mutation in the gene that underlies Hurler's syndrome, a child has a 1-in-4 chance of getting two defective gene copies.
The article by investigators at the University of Minnesota and scientists from Athersys describes preclinical study results suggesting that the stem cells could provide benefit to patients suffering from lysosomal storage disorders, such as Hurler's Syndrome
Courtney has a form of Hurler's Syndrome
which causes her to suffer a rare enzyme deficiency.
Three-year-old Courtney, who suffers from debilitating Hurler's Syndrome
, was told she was too young to take part in a pioneering UK trial.
The youngster suffers from Hurler's Syndrome
, a rare enzyme deficiency disorder which leaves sufferers in a wheelchair, blind and deaf.