Neuraminidase deficiency in the original patient with the Goldberg Syndrome

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Abstract
Homogenates of cultured skin fibroblasts from a non-ambulatory, 20 yr old male with cherry-red spots, corneal clouding, seizures, mental retardation, dysostosis multiplex, dwarfism, coarse facies and loss of vision (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-.alpha.-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 vs. an average control value of 14.2. The Goldberg syndrome should be considered, along with mucolipidosis I and the cherry-red spot - myoclonus syndrome, as resulting from a primary neuraminidase deficiency.