Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase in all tissues. We have conducted a review of fucosidosis, compiling data from published reports and an international questionnaire survey. Seventy-seven patients affected with fucosidosis of which 19 had not been reported before have been identified. A major aim of the present study was to define the natural history of fucosidosis. The clinical picture of fucosidosis consists of progressive mental (95%) and motor (87%) deterioration, coarse facies (79%), growth retardation (78%), recurrent infections (78%), dysostosis multiplex (58%), angiokeratoma corporis diffusum (52%), visceromegaly (44%), and seizures (38%). Whereas the original fucosidosis patients described by Durand et al. (J. Pediatr 75:665-674, 1969) were decerebrate and died before age 5 years, most fucosidosis patients have a slower course of degeneration. Mortality before age 5 years was observed in only 7 patients (9%), whereas 36 patients (64%) reached the second decade. We did not find evidence for the existence of clinical heterogeneity with a rapidly progressive type I and a slowly progressive type II fucosidosis as suggested in the literature. Instead, there seems to exist a wide continuous clinical spectrum. At the biochemical level no heterogeneity in residual fucosidase enzyme activity or cross-reacting immunoreactive fucosidase protein was observed. At the DNA level at least 4 different mutations must be responsible for fucosidosis. These genotypic differences however do not explain the observed phenotypic differences.

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Urines of 11 patients with three different types of mucolipidosis characterized by a total or partial sialidase deficiency, were studied. In all cases, we found an important accumulation of sialyl‐oligosaccharides. The structure of 9 of them has been determined: α‐AcNeu‐(2→3)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)‐β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→6)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)‐β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→6)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)[α‐Man‐(1→6)]β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→3)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)[β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→6)]β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→6)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)[β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→6)]β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→6)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)[α‐AcNeu‐(2→3)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→4)]α‐Man‐(1→3)‐β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→3)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)[α‐AcNeu‐(2→3)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→6)]β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→6)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)[α‐AcNeu‐(2→3)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→6)]β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→6)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)[α‐AcNeu‐(2→6)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→6)]β‐Man‐(1→4)‐GlcNAc. All these compounds are products of incomplete catabolism of glycoproteins and result from the action of a new type of β‐endo‐N‐acetylglucosaminidase able to act on sialylated glycoproteins or glycopeptides. The term sialidosis is proposed for these three types of oligosaccharidosis.

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A workshop was held on "Aspects of treatment of patients with glycogen storage disease" within the framework of the Concerted Action "Inborn errors of metabolism" of the European Communities. Consensus was reached on the main issues of treatment of patients with deficiency of glucose-6-phosphatase, glucose-6-phosphate translocase, debranching enzyme, liver phosphorylase and phosphorylase-b-kinase. The resulting recommendations are reported.

The authors report the sequence of the clinical symptoms in type I sialidosis or cherry-red spot myoclonus syndrome, derived from the cases personally observed and from the literature. They also report neuropathological and neurochemical data. A serial EEG study in a case shows the tendency to a progressive deregulation of cerebral electric activity. Therapeutic attempts to reduce myoclonus, which is one of the more disabling symptoms in this syndrome, are described.