Evaluation of lysosomal storage diseases

M. L. Mazow, Thomas Prager

Research output: Contribution to journalArticlepeer-review


Many putative tests are used to ascertain the diagnosis of lysosomal storage disorders. Screening tests along with many sophisticated enzyme analyses have been used to accomplish the diagnosis of lysosomal storage diseases. Certain screening tests have been championed by authors. These include x-ray findings, skin biopsies, eye findings, conjunctival biopsies, urine analysis for enzymes and white blood cell enzyme analysis. Each method has its limitations. This paper demonstrates that without a gold standard benchmark for screening diagnosis, the conjunctival biopsy with ultrastructure evaluation has the greatest likelihood of diagnosing these entities. Ease of accessibility to the conjunctiva with little chance of morbidity makes this test the best screening technique at present. A conjunctival biopsy combined with clinical findings is the best method to establish the diagnosis of lysosomal storage disorder.

Original languageEnglish (US)
Pages (from-to)189-195
Number of pages7
JournalInternational Pediatrics
Issue number3
StatePublished - Jan 1 1994

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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