mucopolysaccharidosis

Mucopolysaccharidoses (MPS) are a group of rare, inherited metabolic diseases that affect the skeleton, brain, eyes, heart, and liver. These conditions are characterized by the abnormal production, storage, and excretion of glycosaminoglycans, which are complex carbohydrates crucial for connective tissue development.1

Key features of MPS include:
* Skeletal abnormalities: Dwarfism, joint stiffness, and progressive skeletal deformities are common.123
* Neurological impact: Severe mental retardation can occur, particularly in Sanfilippo syndrome.3
* Other symptoms: Impaired hearing, corneal opacification, enlarged liver and spleen, and shortened lifespan are also associated with various types of MPS.123

The inheritance pattern for most MPS types is autosomal recessive, meaning an individual must inherit a faulty gene from both parents. Hunter syndrome is an exception, being sex-linked recessive.13