MPS Diseases: Mucopolysaccharidoses Causes & Symptoms

MPS Mucopolysaccharidoses disease is a Genetic Disorder in Adult & Children. Mucopolysaccharidoses is caused when a human body is enable to produce a specific enzyme.

Mucopolysaccharidoses (MPS) diseases are part of a larger group of disorders known as Lysosomal Storage Disorders (LSDs).The work of lysosomes is that to degrade waste material made by these cells into simpler products so that it can be reuse. This process requires number of enzymes. If enzymes are not  present in insufficient amounts, the recycling process cannot proceed properly and the undegraded material remains stored within the lysosome as a result  stored material increases over time & normal cellular functioning becomes increasingly impaired, leading to the emergence of clinical symptoms.

In a normal human body enzymes are break down and recycle materials in cells, but a person suffering from MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, that result  in the storage of materials in virtually every cell of the body &  cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system.

Mucopolysaccharidoses (MPS) diseases Causes:

  • Lysosomal storage disease
  • Carpel tunnel syndrome
  • Mucolipidosis
  • Glaucoma
  • Metabolic disorders
  • Bone dysplasia
  • Dwarfism

Mucopolysaccharidoses Disease symptoms:

  • Short neck
  • Stiffened joints
  • Abnormal bone size
  • Abnormally shaped teeth
  • Abnormal bone shape
  • Heart (valve) disease
  • Recurrent upper airway infections
  • Corneal clouding
  • Spinal cord compression
  • Carpal tunnel syndrome
  • Hearing loss
  • Enlarged liver and spleen
  • Hernia (inguinal or umbilical)
  • Lung disease/sleep apnea
  • Delayed mental development
  • Coarse facial features
  • Communicating hydrocephalus

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