Why India Is a Top Destination for Lysosomal Storage Disorder

GetWellGo guides international patients to India for Lysosomal Storage Disorder treatment—expert doctors, modern hospitals & affordable healthcare.

Why India Is a Top Destination for Lysosomal Storage Disorder

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    General

  • Published By

    GetWellGo Team

  • Updated on

    19-Aug-2025

Lysosomal Storage Disorder

Lysosomal Storage Disorder (LSD) is a cluster of over 70 metabolic diseases which are hereditary and are occurred due to lysosomal de positioning. Lysosomes are cellular structures that are tiny and composed of enzymes that aid in the digestion of complex molecules (e.g., proteins, fats, and sugars). In LSDs, a genetic mutation causes a loss or abnormality in one of these enzymes (or related proteins), which causes undigested materials in lysosomes. This accumulation gradually destroys cells, organs and tissues.

Causes

  • Mutations in the genes (normally recognized as a form of autosomal recessive inheritance, Fabry and Hunter diseases are X-linked).
  • Failure of or deficiency of lysosomal enzymes, transport proteins or activators.

Lysosomal storage disease treatment in India

This is a summary of Lysosomal Storage Disorder (LSD) therapy in India, relative to treatment choices:

Possible Treatment Options in India:

ERT Enzyme Replacement Therapy (ERT)

ERT, which is the mainstay of a number of treatable LSDs, can be accessed in India in the following conditions:

  • Gaucher disease - imiglucerase, velaglucerase, taliglucerase
  • MPS I - Aldurazyme (laronidase)
  • Elaprase (idursulfase) MPS II
  • Pompes Disease- Myozyme (alglucosidase alfa)
  • Fabry disease- Fabrazyme (agalsidase beta)
  • Vimzim & Naglazyme- MPSIV & VI respectively 

Such treatments are usually made available through the pharmaceutical company sponsored compassionate access programs such as Sanofi-Genzyme and Takeda. Such initiatives were reported to have administered ERT on more than 200 Indian patients in 2017.

A retrospective study cites somewhat limited but not insignificant access: approximately 60 Gaucher patients and 20 MPS I, a small numbers of Fabry patients, and classic infantile Pompe patients have been treated through programs like INCAP, but it is difficult to gain access to MPS II and VI patients. 

Hematopoietic Stem Cell Transplant (H-S-T)

As an option, HSCT can be offered in carefully chosen LSDs, predominantly MPS I and sometimes (but not all) MPS II, Gaucher disease, Krabbe, etc. Nonetheless, Indian data on HSCT are scant, and results may be different due to donor matching, transplant-associated complications, and disease progression 

Palliative Care & Prevention

Management includes where there are certain unavailable or inaccessible therapies:

  • Multidisciplinary (genetic, neurological, pediatric, orthopedic, cardiology, rehabilitation) support of specialists 
  • Genetic counselling, in addition to prenatal diagnosis (PND), has existed in India since at least the 1970s and may provide both early intervention and the opportunity to make informed choices about at-risk pregnancies

Lysosomal storage disorder symptoms

LSDs can lead to a broad array of symptoms due to the fact that various enzymes and different organs are involved in each particular type. As there are 70+ LSDs, the symptoms may differ, however there is a number of clinical features that are at common.

General Symptoms of LSDs

  • Developmental delay/regression (acquiring skills development loss)
  • Rough facial characteristics (thickened lips, large nose, bulky tongue on some versions)
  • Abnormally large liver and spleen (hepatosplenomegaly)
  • Bone malformations (dwarfing, bone stiffness and deformities, bone dysostosis multiplex)
  • Neurological issues: convulsions, clumsiness, spasticity, steady intellectual diminishing
  • Vision disorders: cloudy cornea (MPS), cherry-Red pupil of the eye (Tay-Sachs, Niemann-Pick)
  • Hearing loss
  • Weak muscles and hypotonia (Muscle tone)
  • Renal complications / infections / respiratory problems (acute / recurrent / chronic respiratory infections / renal impairment)
  • Impaired growth or failure to come into puberty

Major LSD Groups LSD Symptoms:

Sphingolipidoses

  • Gaucher disease: splenomegaly/hepatomegaly, bone pain, and fractures, anemia
  • Niemann-Pick disease => neurodegenerative type, lung, cherry-red spot
  • Tay-Sachs disease → regression of development, seizures, blindness, premature death in the severe forms
  • Fabry disease - burning pain in hands/feet / angiokeratomas (skin spots), kidney and heart issues

Mucopolysaccharidoses (MPS)

  • Hurler / Hunter syndrome: coarse facial features, growth and development delay, stiff joints, cardiovascular disease, airway blockage

Glycoproteinoses

  • Rough characteristics, developmental retardation, skeletal abnormalities

Other LSDs

  • Pompes disease ->, weakening of muscles, enlarged heart, difficulty in breathing
  • Cystinosis vascular→ renal failure, ocular crystals, growth retardation

Types of lysosomal storage diseases

LSDs are a broad category of inherited metabolic disorders 70+ types are known to exist. They are categorized according to the kind of molecule that builds up in the lysosomes because of deficiency in enzymes or transporters.

The list below is a categorized set of the primary kinds of LSDs:

Sphingolipidoses (malfunction of the breakup of the sphingolipid)

  • Glucocerebrosidase deficiency- Gaucher disease – accumulation of glucocerebroside
  • Niemann-Pick disease (Types A, B, C) defect transport of sphingomyelin or transport of cholesterol in cells → accumulation of sphingomyelin / cholesterol
  • Tay-Sachs disease -deficient hexosaminidase A- accumulation of GM2 ganglioside
  • Sandhoff disease - hexosaminidase A and B deficiency -> Stacking up of GM2 gangliosides
  • Fabry disease (deficiency of α-galactosidase A) glycobiology • Accumulation of globotriaosylceramide
  • Krabbes disease: deficiency of the Galactosidase Cerebroside → accumulation of galactocerebroside and psychosine
  • Metachromatic leukodystrophy (MLD) -arylsulfatase A deficiency -the accumulation of sulfatide

Mucopolysaccharidoses (MPS) (glycosaminoglycan-breakdown defect)

  • MPS I (Hurler, Hurler-Scheie, Scheie syndromes) -defective 5-L-iduronidase
  • MPS II (Hunter syndrome) - deficiency of sulfatog-iduronate
  • MPS III (Sanfilippo syndrome, types A, B, C and D) - defects in several enzymes
  • MPS IV (Morquio syndrome) defect of breaking keratan sulfate
  • MPS VI (MaroteauxLamy syndrome)- deficiency of arylsulfatase B
  • MPS VII (Sly syndrome) -beta-glucuronidase deficiency

Glycoproteinoses (glycoprotein breakdown defect)

  • Fucosidosis- 3-L-fucosidase deficiency
  • Mannosidosis -alpha-mannosidase deficiency
  • Aspartylglucosaminuria-aspartylglucosaminidase deficiency
  • Sialidosis -deficiency of neuraminidase

Glycogen Storage (Lysosomal type)

  • Pompe disease- deficiency of acid α-glucosidase abladdadfato sterema glycogen build-up in muscles

Transport disorder, cystinosis (transport)

  • Failure of cystine uptake and transport → crystals of cystine are deposited in tissues (particularly in the kidney and eye)

Other Rare LSDs 

  • Wolman disease / Cholesteryl ester storage disease - lack of lysosomal acid lipase fat buildup of cholesterol esters and triglycerides
  • Multiple Sulfatase Deficiency (MSD) deficiency of multiple sulfatases
  • Danon disease- LAMP2 protein (lysosomal-associated membrane protein) defect

Best hospitals for lysosomal storage disorder treatment in India

Factors Affecting Affordable lysosomal storage disorder treatment in India

It is indeed a critical question, as treatment of Lysosomal Storage Disorders (LSDs) is very expensive in India and affordability is the most problematic. The following are the factors that influence the affordability:

Exorbitant prices of Enzyme Replacement Therapy (ERT)

  • Treatment is lifelong hence expensive to treat the children with age.
  • This is something only a few Indian families even can afford with outside help.

Reliance on Compassionate / Corporate Programs

  • There are pharma-sponsored programs of compassionate use wherein many patients have access to drugs (e.g., Sanofi Genzyme, Takeda).
  • It is not universal since it varies depending on the criteria that a company adopts.
  • Lack of assurance of continuation provides financial insecurity to the family.

Geographic /Center of excellence (COE) Access

  • Special treatment is confined within a handful of COEs.
  • Families in the distant regions incur travel, lodging and follow up expenses on top of the financial strain.

Diagnostic Tests

  • Low doctor awareness levels, a lack of newborn screening and a small number of testing facilities contribute to late diagnoses in many LSDs.
  • The level of disease is frequently more advanced in cases of late diagnosis thus necessitating more demanding (and expensive) measures.

Support Care Expenses

In addition to ERT/HSCT, patients need:

  • Care with multidisciplinary (neurology, orthopedics, cardiology, physiotherapy)
  • Procedures (airway, orthopedic corrections)
  • Orthoses devices, rehabilitators and food assistance
  • All these increments place a very weighty financial burden.

Costs of Stem Cell transplant (HSCT)

  • In some of the LSDs (e.g. MPS I, Krabbe), HSCT may be an option.
  • Possibility of complications complicates affordability even further (repeat hospitalizations, ICU care).

Lysosomal storage disorder treatment in India by GetWellGo

GetWellGo is regarded as a leading supplier of healthcare services. We help our foreign clients choose the best treatment locations that suit their needs both financially and medically.

We offer:

  • Complete transparency
  • Fair costs.
  • 24 hour availability.
  • Medical E-visas
  • Online consultation from recognized Indian experts.
  • Assistance in selecting India's top hospitals for lysosomal storage disorder treatment.
  • Expert doctor with a strong track record of success
  • Assistance during and after the course of treatment.
  • Language Support
  • Travel and Accommodation Services
  • Case manager assigned to every patient to provide seamless support in and out of the hospital like appointment booking
  • Local SIM Cards
  • Currency Exchange
  • Arranging Patient’s local food

 

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