Multiple Sulfatase Deficiency With Early Severe Retinal Degeneration

Michael Harbord, J. Raymond Buncic, S. A. Chuang, M. A. Skomorowski, Joe T.R. Clarke

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

Abstract

We report an unusual case of multiple sulfatase deficiency in which neurodegeneration was accompanied by early, severe visual impairment associated with prominent pigmentary retinopathy, suggesting a diagnosis of neuronal ceroid-lipofuscinosis. The levels of arylsulfatases A, B, and C, heparan N-sulfatase, N-acetylgalactosamine-6-sulfate sulfatase, and iduronate-2-sulfate sulfatase were all markedly decreased in cultured skin fibroblasts. Screening tests for mucopolysacchariduria were consistently negative; however, thin-layer chromatographic analysis of isolated urinary glycosaminoglycans showed increased amounts of heparan sulfate. (J Child Neurol 1991;6:229-235).

Original languageEnglish
Pages (from-to)229-235
Number of pages7
JournalJournal of Child Neurology
Volume6
Issue number3
DOIs
Publication statusPublished - 1 Jul 1991
Externally publishedYes

Fingerprint Dive into the research topics of 'Multiple Sulfatase Deficiency With Early Severe Retinal Degeneration'. Together they form a unique fingerprint.

Cite this