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Common hereditary lysosomal storage diseases

Last reviewed: 25 Jun 2024
Last updated: 31 Aug 2023



History and exam

Key diagnostic factors

  • Family history
  • onset in childhood (MPS, Pompe, Gaucher, Fabry, Niemann-Pick type A)
  • onset in adolescence (Fabry, Pompe, Gaucher types 1, 3, mucopolysaccharidosis, Niemann-Pick types B, C)
  • onset in adulthood (Fabry, Gaucher type 1, Pompe)
  • hepatomegaly and/or splenomegaly
  • hyperacusis
  • history of renal failure
  • skin rash/cutaneous lesions
  • large head circumference
  • macular "cherry red spot" on ophthalmoscopy
  • optic atrophy or retinitis pigmentosa on ophthalmoscopy
  • corneal clouding on ophthalmoscopy
  • fatigue
Full details

Other diagnostic factors

  • neurodevelopmental delay
  • hearing impairment/sudden deafness
  • cataract on ophthalmoscopy
  • eye movement disorder
  • progressive dementia and ataxia or gait disturbance
  • failure to thrive
  • joint contracture
  • depression
  • skeletal abnormalities including spinal gibbus
  • hydrocephalus
  • history of recurrent respiratory tract infections
  • psychosis
  • movement disorders
  • premature stroke/transient ischemic attack
  • cardiomegaly
  • valvular cardiac disease
Full details

Risk factors

  • male sex (mucopolysaccharidosis [MPS] II, Fabry disease)
  • Ashkenazi ethnicity
Full details

Diagnostic tests

1st tests to order

  • enzyme assay
  • substrate assay
  • DNA analysis
  • CBC
Full details

Tests to consider

  • ECG
  • echocardiogram
  • pulmonary function tests
  • bone marrow biopsy
  • muscle biopsy
  • CT/MRI of enlarged organ (Gaucher)
  • echocardiogram/ultrasound/MRI (Fabry)
  • CT/x-ray (mucopolysaccharidosis)
Full details

Treatment algorithm


type 1 Gaucher disease

type 2 Gaucher disease

type 3 Gaucher disease

Fabry disease

mucopolysaccharidosis (MPS)

Pompe disease

Tay-Sachs disease

Niemann-Pick disease



Atul B. Mehta, MA, MB BChir, MD, FRCP, FRCPath

Consultant Haematologist

Royal Free Hospital

Professor in Haematology

University College London




ABM has received research grants in association with Takeda, Sanofi-Genzyme and Amicus. He is also an author of a number of references cited in this topic.

Peer reviewers

Gregory M. Pastores, MD

Associate Professor

Departments of Neurology and Pediatrics

NYU School of Medicine

New York



GMP declares that he has no competing interests.

Uma Ramaswami, MD, FRCPCH

Consultant Paediatrician

Paediatric Metabolic Unit

Cambridge University Hospitals




UR has received travel grants, honoraria for lectures, and funding for clinical trials from Shire HGT, Genzyme, and Actelion.

Michael Beck, MD

Head of Department

Children's Hospital

University of Mainz




MB has been reimbursed by Shire, the manufacturer of Elaprase and Replagal, for attending several conferences, for running educational programs and for consulting. MB has received honoraria for speaking from Genzyme (the manufacturer of Myozyme, Fabrazyme, Aldurazyme, and Cerezyme) and Actelion (the manufacturer of Zavesca). MB is an author of a number of references cited in this topic.

Elmer V. Villanueva, MD, ScM, FRIPH

Associate Professor of Public Health

Director of Research

Gippsland Medical School

Monash University




EVV declares that he has no competing interests.

  • Common hereditary lysosomal storage diseases images
  • Differentials

    • Langerhans cell histiocytosis (differential diagnosis of type 2 and 3 Gaucher disease)
    • Rheumatic fever (differential diagnosis of Fabry)
    • Bacterial endocarditis (differential diagnosis of Fabry)
    More Differentials
  • Guidelines

    • Elosulfase alfa for treating mucopolysaccharidosis type 4A
    • Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)
    More Guidelines
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