Test Background The lysosomal storage diseases represent a heterogeneous collection of disorders caused by the malfunction of the lysosomes or one of their digestive proteins, eg. Tay-Sachs or Pompe’s disease. Enzyme deficiency leads to the accumulation of substrates within the cell, resulting in impaired overall cell metabolism. Broadly, these can be classified into one of three categories according to symptoms/signs: • neurological regression, hypotonia or fitting • dysmorphia • hepato/splenomegaly.
Clinical Indications Neonatal/infantile presentation of classic failure to thrive symptoms, with evidence of hepatomegaly, splenomegaly, angiokeratoma, a characteristic ‘cherry-red spot’ on the macula or neurological impairment with or without dysmorphic (facial) features If a mucopolysaccharidosis is suspected urine GAGs screen is usually undertaken prior to testing LYE
Reference Range See report
Sample Required Heparin (green top)
Sample Volume 5-12 mL
Turnaround Time Up to 6 weeks
Notes Not currently performed in house; this is a referred test. Please give clinical details (especially if small sample) as enzymes are assayed according to these. Blood transfusion within 4 weeks may interfere with result and sampling at this time is best avoided.