MPS Type VI is one of the very rare genetic disorders amongst Mucopolysaccharidoses - a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans in human body.

If MPS VI is left untreated, expected life span of the child would be age 20 to 25 years with gradual multiple organ deterioration with every passing year. It's a very debilitating & painful life - for the patient as well as for the family.
  • MPS VI is caused due to deficiency or absence of enzyme called ARSB (arylsulfatase B)
  • Due to this enzyme deficiency, certain substances cannot be cleared out of body & start getting accumulated
  • The accumulated substances start causing many problems including damage to several parts of body
  • Children are born healthy like others, but slowly show up signs between age 1.5 yrs and 4 yrs
  • Coarse facial features and concurrent running nose are one of the first signs to show up
  • Intelligence & Mental Status of child is usually not affected in MPS Type VI

  • Growth is normal at first but stops suddenly around age 8
  • By age 10 children have developed a shortened trunk, crouched stance, and restricted joint movement
  • By age 11 to 14, many children have to seek recourse from a wheel-chair, as their joints become too stiff to walk
  • In more severe cases, children also develop a protruding abdomen and forward-curving spine.
  • Skeletal changes, particularly in the pelvic region, are progressive and limit movement.
  • Many children also have umbilical or inguinal hernias.
  • Nearly all children have some form of heart disease, usually involving valve dysfunction.

  • Enzyme Replacement Therapy (ERT) for MPS Type VI costs approximately $3,65,000 or Rs. 2.50 crores a year
  • ERT has to be given every week by IV Line for entire life-span of the patient
  • ERT for MPS Type VI has been termed amongst World's Most Expensive Drugs by Forbes Magazine
  • ERT is given freely under insurance or government schemes in USA, Europe, Australia, Hong Kong etc. and hence MPS affected children / citizens there can avail this treatment
  • In India, there are just 8 to 10 identified cases of MPS Type 6, but no one is getting ERT, as the Government is insensitive to such health issues despite all efforts
  • ERT for MPS Type VI is called Naglazyme (galsulfase) and is manufactured by BioMarin Pharmaceutical Inc. (USA)

  • Hematopoietic Stem Cell Transplantation (HSCT) is emerging as a promising line of treatment for MPS Type 6
  • Stem Cell Transplantation or Bone Marrow Transplantation enables the body to start producing the missing/defective ARSB Enzyme on its own
  • HSCT, although a slightly risky process, is worth going for as it offers a lot of merits and is currently the only way of achieving enzyme production in body on its own
  • HSCT is more beneficial at early ages, before major progress of MPS VI related symptoms, and is considered only in selected cases after evaluating body-fitness to undergo this process

  • Gene Therapy - Research is being currently undertaken to treat Mucopolysaccharidosis Type VI using gene therapy
  • Gene Therapy would be a one-time cure for MPS Type 6, replacing the defective copy of gene with a healthy one
  • All MPS VI affected individuals are eagerly awaiting arrival of Gene Therapy cure


In most cases of MPS VI, affected infants appear normal at birth and symptoms become apparent around the age between 1.5 yrs and 4 yrs. Initial symptoms may include frequent colds, runny nose, ear infections or growth delays. In most cases, the mucopolysaccharidoses are chronic, progressive disorders and, depending upon the severity, affected individuals may experience a decline in physical function, sometimes resulting in life-threatening complications. MPS VI is also know as Maroteaux-Lamy Syndrome, named after Pierre Maroteaux and his mentor Maurice Emil Joseph Lamy), two French physicians who first described this disorder in the medical literature in 1963.

Web Links & Useful Resources for MPS Type VI

#HelpSaveAvishi is a Crowdfunding initiative by parents of 4.5 yrs old Avishi to help her survive the rare genetic disorder Mucopolysaccharidosis Type 6.

The hospital cost at UMC Utrecht, Netherlands is 1,94,000 Euros or Rs. 1.47 crores + Rs. 48 lakhs towards 1-year living expenses abroad. Total cost of treatment is Rs. 1.94 crores approximately. Dr. J J Boelens from UMC Utrecht is a renowned expert in treating MPS.

Contact Us
Abhisek Jain / Shikha Jain
[parents of Avishi]
193, Nemisagar Colony, Vaishalinagar, Queens Road, Jaipur-302021 (Rajasthan) INDIA

Phone: +91 9672455550
E-Mail: info@helpsaveavishi.com / abhi99@gmail.com

We whole-heartedly thank you for your love, support and generosity !