Lysosomal storage diseases

Last updated: Friday, 06, August, 2010
CausesAppropriate Tests

The initial approach to diagnosis is based on clinical features eg hepatosplenomegaly, dysmorphic features, psychomotor regression, ocular abnormalities (eg, corneal clouding). FBC, 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 enzyme studies on chorionic villus biopsy or amniotic fluid culture (only in cases with an established laboratory diagnosis in a sibling).

Molecular genetics assists with the diagnosis in some disorders.

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

Mucopolysaccharidoses (except San Filippo) 

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

Mucopolysaccharidosis (San Filippo)

Batten syndrome

Multiple sulphatase deficiency

Mucolipidoses II, III, IV

ß mannosidosis