I-Cell Disease

Uwe Luchsinger, Erica M. Bühler, Karoly Méhes, Hans Rudolf Hirt

Research output: Contribution to journalLetter

13 Citations (Scopus)

Abstract

The interesting reports recently published on atypical cases of glycolipidoses prompts us to describe a further I-cell phenomenon in a male child of Italian extraction. Typical face, x-ray films of the skeleton, mental retardation and slight opacities in the cornea favored a diagnosis of mucopolysaccharidosis. Yet the excretion of acid mucopolysaccharides in the urine was never increased.1 Liver biopsies failed to show a marked storage.2 White blood cells did not show typical vacuoles. Repeated analysis of the lysosomal enzymes in liver biopsies showed diminished activities of acid D-β-galactosidase,3 as in classic mucopolysaccharidoses. The child died of bronchopneumonia.

Original languageEnglish
Pages (from-to)1374-1375
Number of pages2
JournalNew England Journal of Medicine
Volume282
Issue number24
DOIs
Publication statusPublished - Jun 11 1970

ASJC Scopus subject areas

  • Medicine(all)

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    Luchsinger, U., Bühler, E. M., Méhes, K., & Hirt, H. R. (1970). I-Cell Disease. New England Journal of Medicine, 282(24), 1374-1375. https://doi.org/10.1056/NEJM197006112822413