Arylsulfatase B Deficiency Disorder

Arylsulfatase B Deficiency Disorder

Contributed byMaulik P. Purohit MD MPHApr 01, 2018

The topic Arylsulfatase B Deficiency Disorder you are seeking is a synonym, or alternative name, or is closely related to the medical condition Mucopolysaccharidosis Type VI.

Quick Summary:

  • Mucopolysaccharidosis Type VI (MPS VI or Maroteaux-Lamy Syndrome) is a rare, genetic metabolic condition that involves an inability of the body to breakdown glycosaminoglycans, which are long chains of sugar molecules. The condition is inherited in an autosomal recessive manner, meaning two copies (one from each parent) of the faulty gene are needed to cause signs and symptoms of the disorder
  • The inheritance of the faulty genes prevents the body from producing an enzyme (known as the arylsulfatase B enzyme) that is responsible for breaking down the sugar molecules. This inability to breakdown these sugars, causes it to buildup leading to many defects
  • Since the condition is genetic, it is present at birth. Although, significant signs and symptoms of Mucopolysaccharidosis Type VI are mostly seen during childhood. These include abnormally large head, frequent ear and respiratory infections, and short stature in children
  • A healthcare professional can use various diagnostic tools, such as a physical exam, electrocardiogram, urinalysis (analysis of urine), and X-rays of the affected regions, to help diagnose Mucopolysaccharidosis Type VI
  • There is no cure for Mucopolysaccharidosis Type VI; however, the treatment provided is symptomatic. These can include enzyme replacement, bone marrow transplant, and other organ-specific treatments
  • The prognosis of Mucopolysaccharidosis Type VI depends upon the severity of the condition. Children with milder signs and symptoms have a better prognosis than those with severe MPS Type VI

Please find comprehensive information on Mucopolysaccharidosis Type VI regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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