Heather A. Lau, MD, Assistant Professor, Department of Neurology; Associate Director, Division of Neurogenetics; Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of Mucopolysaccharidosis type IV (MPS IV) or Morquio disease.
MPS IV is a rare metabolic condition in which the body is unable to break down long chains of sugar molecules called glycosaminoglycans. As a result, toxic levels of these sugars accumulate in cell structures called lysosomes, leading to the various signs and symptoms associated with the condition. Affected people generally develop features of MPS IV between the ages of 1 and 3. These signs and symptoms may include abnormalities of the skeleton, eyes, heart and respiratory system. There are two forms of MPS IV:
– MPS IVA is caused by changes (mutations) in the GALNS gene
– MPS IVB is caused by mutations in the GLB1 gene
Both forms are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.