Lysosomal storage diseases

Keywords: Lipid storage diseases


Appropriate Tests


The initial approach to diagnosis is based on clinical features eg hepatosplenomegaly, dysmorphic features, psychomotor regression, ocular abnormalities (eg, corneal clouding). Full blood count, Blood film (leucocyte inclusions).

Consult pathologist for definitive diagnosis, based on Lysosomal enzyme studies in appropriate tissue - usually leucocytes, cultured skin fibroblasts, or plasma.

Antenatal diagnosis is available with molecular mutation analysis or enzyme studies on chorionic villus biopsy or amniotic fluid culture (only in cases with an established laboratory diagnosis in a sibling).

Additional information about genetic tests may be available in Catalogue of Genetic Tests and Laboratories.

With hepatosplenomegaly

Bone marrow aspiration and trephine biopsy or biopsy of involved organ may be helpful.

Gaucher disease


Niemann-Pick disease


Wolman disease


Cholesteryl ester storage disease



Urinary mucopolysaccharides - consult pathologist.

Gangliosidosis GM1


Glycoprotein storage disease

  • Mannosidosis
  • Fucosidosis

Urinary oligosaccharides - consult pathologist.



Pompe disease


Hepatosplenomegaly mild/absent


Tay-Sachs disease

Carrier screening available, consult pathologist.

Metachromatic leukodystrophy


Krabbe disease


Fabry disease


Batten syndrome


Multiple sulphatase deficiency


Mucolipidoses II, III, IV


ß mannosidosis



Urinary mucopolysaccharides - consult pathologist.

Pompe disease


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