What is mucopolysaccharidosis VII?
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals.
Who treats MPS VII?
The diagnosis of MPS VII was made by a metabolic specialist consultant or a paediatrician specialising in metabolic diseases in most cases (61.5%, 8/13).
How is Sly syndrome diagnosed?
Most people with Sly disease will have elevated levels of GAGs seen in the urine. A confirmatory test is necessary for diagnosis. Skin cells and red blood cells of affected people will have low levels of β-glucuronidase activity. Sly syndrome can also be diagnosed through prenatal testing.
Who treats Sly syndrome?
Hematopoietic Stem Cell Therapy (HSCT) P415L underwent HSCT at 11 years of age and was reported to be doing well 2 years after the transplantation (Islam et al., 1996). There were more than 7 patients that underwent HSCT (Islam et al., 1996; Yamada et al., 1998; Montaño et al., 2016).
What is the Morquio syndrome?
Morquio syndrome is a rare genetic condition that affects a child’s bones and spine, organs, and physical abilities. Children with this condition are missing or don’t produce enough of the enzymes that break down sugar chains naturally produced in the body.
What are mucopolysaccharidosis?
Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body).
What is the life expectancy of a person with Hunter syndrome?
No cure is available for Hunter syndrome. The most severe cases can be life-threatening, with life expectancy typically between 10 and 20 years. People with mild cases of the disease typically live longer into adulthood.
What is the life expectancy of someone with MPS?
The life expectancy of these individuals is 10 to 20 years. Individuals with mild MPS II also have a shortened lifespan, but they typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.
How long can you live with Fabry disease?
Published data from the Fabry registry indicates that male Fabry disease patients live an average of about 58 years, compared to about 75 years for men in the general population in the U.S. For women with Fabry disease, the average life expectancy is around 75 years compared to 80 years for women in the U.S. general …