What is Mucopolysaccharidosis Type IX (MPS9)?
Mucopolysaccharidosis Type IX; MPS9 is a rare genetic disorder and lysosomal storage disease.
The disease may present at birth or later age. The syndrome is progressive but may progress at either a slow or fast rate depending on the type the individual develops.
What gene change causes Mucopolysaccharidosis Type IX (MPS9)?
The syndrome is a lysosomal storage disease caused by deficiency of the enzyme hyaluronoglucosaminidase-1, which degrades hyaluronan, due to mutations in the HYAL1 gene, inherited with an autosomal recessive pattern. The syndrome is a lysosomal storage disease affecting the body’s ability to break down the large sugar molecules known as glycosaminoglycans. The buildup of these molecules in the body tissue triggers the symptoms of the syndrome. It is inherited in an autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Mucopolysaccharidosis Type IX (MPS9)?
Symptoms of the syndrome included prearticular masses with swelling, and ocassionally, painful. No organomegaly, abnormality of joint movement has been described.
Possible clinical traits/features:
Autosomal Recessive, Short Stature, Recurrent Otitis Media, Flatened Nasal Bridge, Bifid Uvula, Submucous Cleft Palate, Multiple Preaurcilar Soft Tissue Masses, Acetabular Erosions, Poploteal Synovial Cyst, Joint Effusion, Proliferative Synovitis, Cutaneous Swelling, Elevated Plasma Hyaluronan, Febrile Illness after Swelling
How is it diagnosed?
To find out if someone has a diagnosis of Mucopolysaccharidosis Type VI (MPS6), it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
