Fróðskaparrit - 01.01.1975, Side 12

20
Amylo-l,6-glucosidase deficiency
Acknowledgement
This work was aided by a grant from Den lægevidenskabe-
lige Forskningsfond for Storkøbenhavn, Færøerne og Grønland.
ABSTRACT
Seven cases of glycogenosis type III (amylo-l,6-glucosidase deficiency)
in two probably related families from the Faroe Islands are presented.
The group of patients comprised two pairs of sibs. In a total of 78
members of the 2 families case histories were obtained and clinical ex-
aminations, analyses of amylo-l,6-glucosidase activity in erythrocytes and
leucocytes, determinations of red cell, serum and enzyme groups as well
as HL-A types were performed. In addition, all patients were subjected
to studies of liver function. The distribution of patients in these families
supports the assumption of autosomal recessive inheritance.
Heterozygotes could not be diagnosed with certainty by the methods of
enzyme activity analysis employed.
The incidence of glycogenosis type III with amylo-l,6-glucosidase
deficiency was found to be high in the Faroe Islands.
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