Urinary Screening of Globoid-Cell Leu Kodystrophy

Kunihiko Suzuki, Yoshiyuki Suzuki, R. J. Desnick, S. J. Desnick, Glyn Dawson

Research output: Contribution to journalLetterpeer-review

1 Scopus citations

Abstract

The Editor: The article by Desnick et al. in the April 8 issue of the Journal, entitled “Diagnosis of Glycosphingolipidoses by Urinary-Sediment Analysis,” includes two patients classified as having Krabbe's globoid-cell leukodystrophy (GLD). One of the patients (B.C.) had galactocerebrosidase activity of 2.13 nmoles per hour per milligram of protein, whereas the other had the activity of 0.31. Our laboratory carried out these assays, and we do not share the authors' judgment that B.C. has GLD. In our experience, all tissues, including cultured fibroblasts, of patients (total number 17, so far) with GLD are always severely deficient in the.

Original languageEnglish
Pages (from-to)238-239
Number of pages2
JournalNew England Journal of Medicine
Volume285
Issue number4
DOIs
StatePublished - 22 Jul 1971
Externally publishedYes

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