The patient with combined deficiency of neuraminidase and 21-hydroxylase

Histopathologic, ultrastructural and Golgi impregnation studies disclosed lesions characteristic of a neuronal lysosomal storage disease in related sheep with onset of neurologic signs at 4-6 months. Biochemical and enzymatic evaluation disclosed storage of GM1 ganglioside, asialo-GM1, and neutral long chain oligosaccharides in brain, urinary excretion of neutral long chain oligosaccharides, and deficiencies of lysosomal beta-galactosidase and alpha-neuraminidase. Retrospective and limited prospective genetic studies suggested autosomal recessive inheritance. A gene-dosage effect on beta-galactosidase levels was documented in fibroblasts from putative heterozygous sheep. Fibroblasts from affected sheep did not have increased beta-galactosidase activity after incubation with the protease inhibitor, leupeptin. In some aspects this disease is similar to GM1 gangliosidosis, but is unique in that a genetic defect in lysosomal beta-galactosidase may cause the deficiency of lysosomal alpha-neuraminidase.

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Inherited lysosomal storage disease associated with deficiencies of β‐galactosidase and α‐neuraminidase in sheep

Ahern-Rindell

Prieur

Murnane

et al. 1988

Am. J. Med. Genet.

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Cloning and Characterization of NEU2, a Human Gene Homologous to Rodent Soluble Sialidases

Monti

Preti

Rossi³

et al. 1999

Genomics

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Comparative map for mice and humans

Nadeau

Davisson²,

Doolittle³

et al. 1991

Mammalian Genome

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The patient with combined deficiency of neuraminidase and 21-hydroxylase

Cited by 12 publications

References 10 publications

Inherited lysosomal storage disease associated with deficiencies of β‐galactosidase and α‐neuraminidase in sheep

Inherited lysosomal storage disease associated with deficiencies of β‐galactosidase and α‐neuraminidase in sheep

Cloning and Characterization of NEU2, a Human Gene Homologous to Rodent Soluble Sialidases

Comparative map for mice and humans

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