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

A. J. Ahern-Rindell, D. J. Prieur, R. D. Murnane, S. S. Raghavan, P. F. Daniel, R. H. McCluer, Steven U. Walkley, S. M. Parish

Research output: Contribution to journalArticle

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Abstract

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 β-galactosidase and α-neuraminidase. Retrospective and limited prospective genetic studies suggested autosomal recessive inheritance. A gene-dosage effect on β-galactosidase levels was documented in fibroblasts from putative heterozygous sheep. Fibroblasts from affected sheep did not have increased β-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 β-galactosidase may cause the deficiency of lysosomal α-neuraminidase.

Original languageEnglish (US)
Pages (from-to)39-56
Number of pages18
JournalAmerican Journal of Medical Genetics
Volume31
Issue number1
StatePublished - 1988
Externally publishedYes

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Galactosidases
Lysosomal Storage Diseases
Sheep
Oligosaccharides
Fibroblasts
GM1 Gangliosidosis
Gene Dosage
Neuraminidase
Neurologic Manifestations
Protease Inhibitors
Prospective Studies
Neuraminidase 1 deficiency
Brain
asialo GM1 ganglioside

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Ahern-Rindell, A. J., Prieur, D. J., Murnane, R. D., Raghavan, S. S., Daniel, P. F., McCluer, R. H., ... Parish, S. M. (1988). Inherited lysosomal storage disease associated with deficiencies of β-galactosidase and α-neuraminidase in sheep. American Journal of Medical Genetics, 31(1), 39-56.

Inherited lysosomal storage disease associated with deficiencies of β-galactosidase and α-neuraminidase in sheep. / Ahern-Rindell, A. J.; Prieur, D. J.; Murnane, R. D.; Raghavan, S. S.; Daniel, P. F.; McCluer, R. H.; Walkley, Steven U.; Parish, S. M.

In: American Journal of Medical Genetics, Vol. 31, No. 1, 1988, p. 39-56.

Research output: Contribution to journalArticle

Ahern-Rindell, AJ, Prieur, DJ, Murnane, RD, Raghavan, SS, Daniel, PF, McCluer, RH, Walkley, SU & Parish, SM 1988, 'Inherited lysosomal storage disease associated with deficiencies of β-galactosidase and α-neuraminidase in sheep', American Journal of Medical Genetics, vol. 31, no. 1, pp. 39-56.
Ahern-Rindell AJ, Prieur DJ, Murnane RD, Raghavan SS, Daniel PF, McCluer RH et al. Inherited lysosomal storage disease associated with deficiencies of β-galactosidase and α-neuraminidase in sheep. American Journal of Medical Genetics. 1988;31(1):39-56.
Ahern-Rindell, A. J. ; Prieur, D. J. ; Murnane, R. D. ; Raghavan, S. S. ; Daniel, P. F. ; McCluer, R. H. ; Walkley, Steven U. ; Parish, S. M. / Inherited lysosomal storage disease associated with deficiencies of β-galactosidase and α-neuraminidase in sheep. In: American Journal of Medical Genetics. 1988 ; Vol. 31, No. 1. pp. 39-56.
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