PMID: 7372342Jan 1, 1980Paper

Deficiency of neuraminidase in the sialidoses and the mucolipidoses

Human Genetics
W R Den Tandt, J G Leroy

Abstract

Neuraminidase activity in cultured fibroblasts from patients either with various forms of sialidosis or with I-cell disease (ICD) or mucolipidosis (ML) III has been determined by both a colorimetric and a fluorometric method. The former applied to frozen fibroblast pellets demonstrated a specific deficiency of neuraminidase in patients with the sialidoses. The enzyme was also deficient in I-cells, as were other lysosomal hydrolases. With the fluorogenic substrate these data could be confirmed and extended, and elementary kinetics of neuraminidase studied. In unfrozen freshly harvested fibroblasts, neuraminidase activity was severalfold that in frozen aliquots. A comparative and simultaneous study could not reveal substantial differences between the residual neuraminidase activity found in the various clinical forms of sialidosis. And, in fibroblasts from patients with ICD, also called ML II, the deficiency of this enzyme is quantitatively similar to that in the sialidoses, but the residual activity in ML III is three times higher. In both ML II and ML III the defect is probably secondary to the unknown metabolic error.

References

May 30, 1978·Biochemical and Biophysical Research Communications·D A WengerC Wharton
Mar 1, 1978·Annals of Neurology·I RapinJ S O'Brien
Dec 21, 1977·Biochemical and Biophysical Research Communications·J S O'Brien
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Jan 1, 1977·American Journal of Medical Genetics·T E Kelly, G Graetz
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Oct 1, 1972·Pediatric Research·J G LeroyJ S O'Brien

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Citations

Feb 26, 1982·Clinica Chimica Acta; International Journal of Clinical Chemistry·M KuriyamaT Miyatake
Dec 29, 1984·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y Okamura-OhoT Kobayashi
Jul 30, 1996·Clinica Chimica Acta; International Journal of Clinical Chemistry·M BeckK Harzer
May 1, 1982·Journal of the Neurological Sciences·M KuriyamaT Kitagawa
Feb 1, 1984·Journal of Clinical Chemistry and Clinical Biochemistry. Zeitschrift Für Klinische Chemie Und Klinische Biochemie·W R Den Tandt, R Brossmer
Nov 1, 1985·Journal of Clinical Chemistry and Clinical Biochemistry. Zeitschrift Für Klinische Chemie Und Klinische Biochemie·A M Gressner, K H Henn
Mar 13, 2012·Archives of Sexual Behavior·Samantha J DawsonMartin L Lalumière

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