Mucopolysaccharidosis type IV-A Morquio syndrome
Mucopolysaccharidosis type IV-A (also known as Morquio syndrome or Morquio-Brailsford syndrome) is a rare lysosomal storage disease characterized by skeletal abnormalities, vision and hearing problems, and cardiovascular issues. It is one of the seven types of Mucopolysaccharidosis (MPS), a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs).
Etiology[edit | edit source]
Mucopolysaccharidosis type IV-A is caused by mutations in the GALNS gene, which provides instructions for producing an enzyme called N-acetylgalactosamine-6-sulfatase. This enzyme is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the GALNS gene disrupt the normal function of this enzyme, leading to the accumulation of GAGs in cells throughout the body, particularly in the cartilage and cornea.
Symptoms[edit | edit source]
The symptoms of Mucopolysaccharidosis type IV-A typically become apparent between the ages of 1 and 3. These may include abnormal development of the skeletal system, leading to short stature, knock knees, and abnormal curvature of the spine. Other symptoms may include vision and hearing problems, heart valve disease, and breathing difficulties.
Diagnosis[edit | edit source]
Diagnosis of Mucopolysaccharidosis type IV-A is based on clinical examination, patient history, and laboratory tests. These tests may include urine tests for excess GAGs, blood tests to measure enzyme activity, and genetic testing to identify mutations in the GALNS gene.
Treatment[edit | edit source]
There is currently no cure for Mucopolysaccharidosis type IV-A. Treatment is aimed at managing symptoms and improving quality of life. This may include physical therapy, surgery to correct skeletal abnormalities, and enzyme replacement therapy to provide the missing or malfunctioning enzyme.
Prognosis[edit | edit source]
The prognosis for individuals with Mucopolysaccharidosis type IV-A varies widely. Some individuals may live into adulthood, while others may have a significantly shortened lifespan due to complications such as heart disease and respiratory failure.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Mucopolysaccharidosis type IV-A Morquio syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
