Journal of Inherited Metabolic Disease

, Volume 4, Issue 1, pp 221–223

Combined deficiency of β-galactosidase and neuraminidase: Three affected siblings in a French family


  • I. Maire
    • Laboratoire d'EnzymologieService de Biochimie, Hôpital Debrousse
  • A. Nivelon-Chevallier
    • Service de GénétiqueHôpital du Bocage

DOI: 10.1007/BF02263656

Cite this article as:
Maire, I. & Nivelon-Chevallier, A. J Inherit Metab Dis (1981) 4: 221. doi:10.1007/BF02263656


Three affected siblings from France have been described with a combined deficiency of β-galactosidase and neuraminidase. Oligosaccharides were found in urine and the enzyme activities determined in leukocytes and cultured fibroblasts. Further characterization of the defect in this family is needed.

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© MTP Press Limited 1981