Summary
This report concerns a 3-month-old girl with rapidly progressive psychomotor retardation, hepatomegaly, vacuolated lymphocytes, minimal bone dysplasia and normal excretion of acid mucopolysaccharides. A deficiency of acid β-galactosidase was demonstrated in isolated leucocytes and in a liver biopsy. The diagnosis of generalized gangliosidosis due to deficiency of β-galactosidase was also based on the absence of the enzyme activity from cultured fibroblasts.
The diagnosis was confirmed on autopsy at 16 months by typical histology, electron microscopy and biochemistry of the organs.
β-galactosidase deficiency has been demonstrated in various clinical conditions ranging from generalized gangliosidosis with severe mental retardation to clinical pictures resembling Morquio's disease and normal intelligence.
The heterogeneity of the clinical manifestations in β-galactosidase deficiency could be explained by different residual activities of a structurally mutated enzyme towards its various substrates.
Zusammenfassung
Der Fall eines dreimonatigen Mädchens mit einer rasch progredienten psychomotorischen Retardation, einer Hepatomegalie, vacuolisierten Lymphocyten und nur geringgradigen Skeletveränderungen wird dargestellt. Die Ausscheidung von sauren Mucopolysacchariden war normal. An isolierten Leukocyten und in einer Leberbiopsie konnte ein Fehlen der sauren β-Galactosidase nachgewiesen werden. Die Diagnose einer generalisierten Gangliosidose mit fehlender Aktivität der β-Galactosidase konnte auch an kultivierten Fibroblasten bestätigt werden.
Bei der Autopsie mit 16 Monaten wurde die Diagnose anhand von typischen Befunden histologischer, elektronenoptischer und biochemischer Untersuchungen der Organe bestätigt.
Der angeborene β-Galactosidase-Mangel wurde bei den verschiedensten klinischen Krankheitsbildern gefunden, die von der generalisierten Gangliosidose mit schweren geistigen Defekten bis zu einem Morquio-ähnlichen Bild mit normaler Intelligenz reichen.
Die Heterogeneität der klinischen Manifestationen beim β-Galactosidase-Mangel kann durch eine verschiedene Restaktivität des strukturmäßig veränderten Enzyms bezüglich seiner verschiedenen Substrate erklärt werden.
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This investigation has been supported by the Swiss National Found, Grant No. 3.3270.74 and 3.660-0.75.
On sabbatical leave from the Department of Neurosciences, University of California, San Diego, La Jolla, California. In the Department of Pediatrics, University of Berne.
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Fricker, H., O'Brien, J.S., Vassella, F. et al. Generalized gangliosidosis: Acid β-galactosidase deficiency with early onset, rapid mental deterioration and minimal bone dysplasia. J Neurol 213, 273–281 (1976). https://doi.org/10.1007/BF00316267
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DOI: https://doi.org/10.1007/BF00316267