Lysosomal storage diseases
Last updated: Friday, 06, August, 2010
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.
Bone marrow aspiration and trephine biopsy or biopsy of involved organ may be helpful.
Cholesteryl ester storage disease
Mucopolysaccharidoses (except San Filippo)
Urinary mucopolysaccharides - consult pathologist.
Glycoprotein storage disease
Urinary oligosaccharides - consult pathologist.
Carrier screening available, consult pathologist.
Mucopolysaccharidosis (San Filippo)
Multiple sulphatase deficiency
Mucolipidoses II, III, IV