Name of disease:
Mucopolysaccharidoses (MPS) - Type 6
ICD-10 diagnosis code:
Most cases of mucopolysaccharidosis type 6 are autosomal recessive It is caused by the mutation of ARSB gene in chromosome 5, which causes the deficiency of a lysosomal enzyme arylsulfatase B,
Mode of inheritance:
It can be sporadic or is inherited from parents in autosomal recessive pattern of inheritance.
The diagnosis of mucopolysaccharidosis Type 6 is based on the testing of urine to see if there is elevated level of glycosaminoglycans To confirm diagnosis, we can use blood test for the deficiency of lysosomal enzyme arylsulfatase B.
Age of onset:
At any age but usually in adult
Common signs and symptoms:
Short stature Degenerative joint disease Cardiac valve disease Reduced pulmonary function Hepatosplenomegaly Hearing loss Sleep apnea Corneal clouding Inguinal or umbilical hernia Hydrocephalus, leading to headache
Available treatments (medicinal and non-medicinal):
Currently, medication Naglazyme is used to treat the disease, which acts as an enzyme replacement therapy for the lysosomal enzyme arylsulfatase B. Other treatments are mainly directed toward specific symptoms of diseases
Disease management tips:
For patients with sleep apnea, it is recommended that they have surgical resection of tonsil and adenoids. Patients may have hydrocephalus, which may have serious complications. Therefore, a tube should be inserted to drain the excess cerebrospinal fluid. Corneal transplantation can be done for patients with severe corneal clouding. Anti-inflammatory medications can be used to help patients with heart abnormalities and chronic infection, Patients may have joint stiffness. Therefore, it is recommended that patients should receive physical therapy and exercise regularly. Diseased children might have hearing loss, which impairs their communication. In this case, speech therapy may help.
Other useful websites
More about the disease:https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-vi/ Patient groups: Hong Kong Mucopolysaccharidoses & Rare Genetic Diseases Mutual Aid Grouphttp://mps.org.hk/en/home/