Assay procedures are currently available for the detection of patients and carriers for all nine lipid storage diseases. In six of these conditions reliable determinations may be carried out with commercially available artificial substrates. In the remaining three diseases the use of radioactively labeled lipids is required for enzyme assays. Detection of heterozygotes for Niemann-Pick disease is reported for the first time. A potentially useful artificial substrate is proposed for the detection of patients with Niemann-Pick disease. Automated serum enzyme assays may be useful for large scale screening of heterozygous carriers of lipid storage diseases, and in combination with intrauterine diagnosis could lead to the preventive control of such disorders.
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