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
Heparin (green top)
Up to 6 weeks
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.