We report on the clinical, biochemical and molecular studies of 8 Sicilian patients with acid maltase deficiency. 6 of them presented with the adult form and 2 with the lethal infantile variant (Pompe's disease). All patients showed a vacuolar myopathy with intralysosomal glycogen accumulation. Acid maltase activity was variably reduced in adult patients whereas it was nearly undetectable in Pompe's patients. Molecular analysis revealed the presence of a mutation in one allele in 4 patients and in both alleles in the others. 3 of adult patients were compound eterozygotes for the IVS1 (-13 T->G) transversion and for deletion of exon 18 (A 18), while in the other 3 IVS1 was present in one allele. Of the 2 Pompe's cases , one was homozygous and the other heterozygous for A18. The allele frequency of A18 was 0.33, similar to that reported in Dutch population (Kroos et al, 1995). Interestingly, while A 18 was highly frequent in this group of Sicilian patients, it was not found in other 21 examined patients coming from different Italian areas.
|Number of pages||1|
|Journal||Italian Journal of Neurological Sciences|
|Publication status||Published - 1997|
ASJC Scopus subject areas
- Clinical Neurology