The topic Mucopolysaccharide Storage Disease you are seeking is a synonym, or alternative name, or is closely related to the medical condition Mucopolysaccharidosis.

Quick Summary:

• Mucopolysaccharidosis (MPS) 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 typically 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 that is responsible for breaking down the sugar molecules. This inability to breakdown these sugars, causes it to buildup in the body, leading to many defects
• There are many subtypes of MPS and these include:
  • Mucopolysaccharidosis Type I: They are of 2 types and include the severe type and the attenuated type (less common)
  • Mucopolysaccharidosis Type II: This type is more commonly prevalent among Jewish communities and can cause severe abnormalities in the affected children
  • Mucopolysaccharidosis Type III: It is the most common type of Mucopolysaccharidosis. MPS Type III is subdivided into 4 types including type IIIA, type IIIB, type IIIC, and type IIID
  • Mucopolysaccharidosis Type IV: It is of 2 types (types IVA and IVB) based on the different genes that code for different proteins/enzymes
  • Mucopolysaccharidosis Type VI: This type is known to cause spinal cord defects and other bone and joint abnormalities
  • Mucopolysaccharidosis Type VII: Babies with severe MPS Type VII may die in utero or shortly after birth, due to a condition known as hydrops fetalis
  • Mucopolysaccharidosis Type IX: It is an extremely rare disorder that results in the formation of several soft tissue tumors in the joints of the body (such as the knees and ankles)
• Since Mucopolysaccharidosis is a genetic condition, it is present at birth. But, significant signs and symptoms may be seen a little later as the child grows (between 2-8 years). The signs and symptoms may include abnormal facial features, cloudy corneas, abnormal development of spine, heart valve defects, and short stature in children
• A healthcare professional can use various diagnostic tools, such as a physical exam, electrocardiogram, analysis of urine, and X-rays of the affected regions, to help diagnose Mucopolysaccharidosis
• There is no cure for Mucopolysaccharidosis and the treatment provided is symptomatic. These can include enzyme replacement, bone marrow transplant, and other organ specific treatments
• Prognosis for children with Mucopolysaccharidosis depends upon the severity of the signs and symptoms. Nevertheless, the prognosis is generally poor; it often involves death at a young age. Complications, such as nervous system and heart defects, are generally life-threatening that can lead to fatalities

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