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Mucopolysaccharidosis Type IVA

Información general sobre la enfermedad

Otros nombres

  • Morquio syndrome
  • Morquio-Brailsford syndrome
  • MPS IVA

Tipo de enfermedad

Prevalencia al nacimiento

It is unknown how many babies are born with this rare condition each year in the United States.

Resultado del examen

Decreased GALNS enzyme activity +/- increased GAG levels

Qué es Mucopolysaccharidosis Type IVA

Mucopolysaccharidosis type IVA (MPS IVA) is one condition in a group of inherited (genetic) conditions that prevent the body from processing sugars properly.

The body uses complicated sugars called glycosaminoglycans (GAGs) in several important processes. An enzyme called N-acetyl-galactosamine-6-sulfatase (GALNS) breaks down GAGs so that the body can use them. This process occurs in special compartments inside your cells called lysosomes.

MPS IVA is a condition that occurs when GALNS is absent, or present at low levels. The lysosomes then have trouble breaking down GAGs. This causes a buildup of GAGs in the tissues that can result in problems throughout the body. GAGs used to be called mucopolysaccharides, which is where the condition got its name.

High levels of GAGs can damage many parts of the body. This damage leads to the signs and symptoms of the condition.

Examen de recién nacidos y seguimiento

Detalles de la enfermedad

Tratamiento y manejo

It is important to talk to your health care provider about what type of evaluations may be useful to look for problems and which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.

Testing may include:

  • MRI or CT scans
  • X-rays
  • Ultrasound picture of the heart (echocardiogram)
  • Test of the heart’s electrical signals (electrocardiogram, ECG or EKG)
  • Hearing tests

Treatments may include the following:

  • Enzyme replacement therapy (ERT)
  • Physical therapy
  • Surgery

Health outcomes for MPS IVA vary based on a child’s form of the condition. For children with the less severe form, early and ongoing treatment can lead to healthy growth and development. For children with the more severe form, early treatment can prevent or delay some serious symptoms of the condition.

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