Clinical, biochemical and molecular aspects of acid maltase deficiency

A. Toscano, S. Servidei, A. Spinazzola, G. De Rosa, E. Bertini, C. Rodolico, M. C. Fazio, P. Tonali, G. Vita

Research output: Contribution to journalArticle


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.

Original languageEnglish
Pages (from-to)107
Number of pages1
JournalItalian Journal of Neurological Sciences
Issue number4
Publication statusPublished - 1997

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Clinical, biochemical and molecular aspects of acid maltase deficiency'. Together they form a unique fingerprint.

  • Cite this

    Toscano, A., Servidei, S., Spinazzola, A., De Rosa, G., Bertini, E., Rodolico, C., Fazio, M. C., Tonali, P., & Vita, G. (1997). Clinical, biochemical and molecular aspects of acid maltase deficiency. Italian Journal of Neurological Sciences, 18(4), 107.