Neuraminidase deficiency in the original patient with the Goldberg syndrome

G. H. Thomas, M. F. Goldberg, C. S. Miller, L. W. Reynolds

Research output: Contribution to journalArticlepeer-review

Abstract

Homogenates of cultured skin fibroblasts from a non ambulatory, 20 year old male with cherry red spots, corneal clouding, seizures, mental retardation, dysostosis multiplex, dwarfism, coarse facies and loss of vision, originally described by Goldberg et al. (1971), have diminished neuraminidase activity and an excess of neuraminic acid rich compounds. Specifically, these cells have 2-17% normal neuraminidase when measured with 2 (3' methoxyphenyl) N acetyl α neuraminic acid, N acetyl neuramin lactose and fetuin. Activities of 12 other lysosomal enzymes were either at or above the range of normal control fibroblasts. Total neuraminic acid concentration was 44.3 nmol/mg protein versus an average control value of 14.2. It is concluded that the Goldberg syndrome should be considered, along with mucolipidosis I and the cherry red spot-myoclonus syndrome, as resulting from a primary neuraminidase deficiency.

Original languageEnglish (US)
Pages (from-to)323-330
Number of pages8
JournalClinical Genetics
Volume16
Issue number5
DOIs
StatePublished - Jan 1 1979

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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