Fróðskaparrit - 01.01.1975, Blaðsíða 1

Amylo-i,6-glucosidase deficiency
(glycogenosis type III) in the Faroe Islands
B. Jensen, J. Cohn, P. Wang, M. Hauge, K. Henningsen
and A. Svejgaard.
Department of Medicine, Landssjúkrahúsið, Tórshavn; Department of
Paediatrics, University Clinic, Copenhagen; Department of Medicine,
Marselishorg Hospital, Aarhus; Institute of Clinical Genetics, Odense;
Blood Group Department, University lnstitute of Forensic Medicine,
Copenhagen and the Tissue Typing Laboratory, University Clinic,
Copenhagen.
Key words Glycogenosis type III
Family study
Faroe Islands
The glycogen storage disease glycogenosis type III has not
yet been fully elucidated with regard to its genetic basis. Bio-
chemical studies have revealed some unexplained heterogeneity,
even within families2 3 4 5 7 9 10. It is not clear whether more
genes, allelic or non-allelic, may be involved, and a search for
biochemical abnormalities in the heterozygotes has failed to
give fully consistent results which would be of considerable
help in further genetic studies. Most of the published families
with multiple cases support the assumption of autosomal reces-
sive inheritance, but the relative rarity of the condition and
probably also technical problems have impeded full clarifica-
tion of the aetiology and pathogenesis of this condition.
During the last decades it became apparent that amylo-1,
6-glucosidase deficiency was not uncommon in the Faroe Is-
2 — Fróðskaparrit