Lysosomal storage diseases

Keywords: Lipid storage diseases

Causes

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

 

Mucopolysaccharidoses

Urinary mucopolysaccharides - consult pathologist.

Gangliosidosis GM1

 

Glycoprotein storage disease

  • Mannosidosis
  • Fucosidosis

Urinary oligosaccharides - consult pathologist.

Sialidosis

 

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

 

Mucopolysaccharidoses

Urinary mucopolysaccharides - consult pathologist.

Pompe disease