Clin Genet. 1978 Apr;13(4):369-79.

Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia.

Thomas GH, Tipton RE, Ch'ien LT, Reynolds LW, Miller CS.

Abstract

A 31-year-old male is described who has macular cherry-red spots, increased deep tendon reflexes and and myoclonus without dementia. An older brother died at age 33 of a disease with similar symptomatology. Homogenates of cultured fibroblasts from the patient exhibited 2.6, 8.1 and 12.4% of normal mean sialidase (neuraminidase, N-acetyl-neuraminosyl glycohydrolase, EC 3.21.18) activity, respectively, against 2-(3'-methoxyphenyl)-N-acetyl-alpha-neuraminic acid, N-acetyl-neuramin-lactose and fetuin. Activities of 14 other lysosomal enzymes were within the range of normal control fibroblasts. The sialidase activities in fibroblasts from the patient's parents and children were 30 to 67% of normal. It is concluded that this is the first proven case of a new autosomal recessive disorder resulting in cherry-red spots, myoclonus and a sialidase deficiency.

PMID:: 657577; [PubMed - indexed for MEDLINE]

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Neuraminidase deficiency in the original patient with the Goldberg syndrome. [Clin Genet. 1979]
Neuraminidase deficiency in the original patient with the Goldberg syndrome.
Thomas GH, Goldberg MF, Miller CS, Reynolds LW. Clin Genet. 1979 Nov; 16(5):323-30.
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Cited by 6 PubMed Central articles

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. [Proc Natl Acad Sci U S A. 1982]
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.
D'Azzo A, Hoogeveen A, Reuser AJ, Robinson D, Galjaard H. Proc Natl Acad Sci U S A. 1982 Aug; 79(15):4535-9.
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Neuraminidase deficiency: case report and review of the phenotype. [J Med Genet. 1987]
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