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Neuraminidase deficiency in the original patient with the Goldberg Syndrome

Neuraminidase deficiency in the original patient with the Goldberg Syndrome 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′ meth-oxyphenyl)-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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Neuraminidase deficiency in the original patient with the Goldberg Syndrome

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References (46)

Publisher
Wiley
Copyright
1979 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.1979.tb01010.x
Publisher site
See Article on Publisher Site

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′ meth-oxyphenyl)-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.

Journal

Clinical GeneticsWiley

Published: Nov 1, 1979

Keywords: Cherry-red spot; Goldberg Syndrome; mucolipidosis I; myoclonus; neuraminic acid; neuraminidase deficiency

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